AICSR
MCID: ADR056
MIFTS: 56

Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (AICSR)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

MalaCards integrated aliases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

Name: Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 56 12 29 6 39 71
Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 56 36 13
Congenital Adrenal Insufficiency 12 6 15
P450scc Deficiency 56 12 73
Adrenogenital Syndrome 43 71
46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency 58
Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete 73
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal 73
Adrenal Insufficiency, Congenital 71
Xy Sex Reversal-Adrenal Failure 58
Congenital Adrenal Hyperplasia 71
Aicsr 73

Characteristics:

Orphanet epidemiological data:

58
46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

OMIM : 56 P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011). (613743)

MalaCards based summary : Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete, also known as adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete, is related to 3-beta-hydroxysteroid dehydrogenase deficiency and adrenocortical carcinoma, hereditary. An important gene associated with Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete is CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1), and among its related pathways/superpathways are Steroid hormone biosynthesis and Metabolism. The drugs Hydrocortisone acetate and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include ovary, adrenal gland and endothelial, and related phenotypes are agenesis of corpus callosum and failure to thrive

Disease Ontology : 12 An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has material basis in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.

KEGG : 36 The cholesterol side-chain cleavage enzyme P450scc, encoded by CYP11A1, catalyzes the conversion of cholesterol to pregnenolone in the first step of steroid hormone biosynthesis. CYP11A1 deficiency is commonly associated with adrenal insufficiency, and in 46,XY individuals, with variable degrees of disorder of sex development.

UniProtKB/Swiss-Prot : 73 Adrenal insufficiency, congenital, with 46,XY sex reversal: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia.

Related Diseases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 3-beta-hydroxysteroid dehydrogenase deficiency 30.5 HSD3B2 CYP21A2
2 adrenocortical carcinoma, hereditary 30.3 STAR CYP17A1 CYP11A1
3 amenorrhea 30.0 POR POMC CYP17A1
4 adrenal cortical adenoma 29.9 POMC CYP21A2 CYP17A1 CYP11A1
5 leydig cell tumor 29.9 STAR CYP21A2 CYP17A1 CYP11A1
6 adrenal adenoma 29.6 POMC CYP21A2 CYP17A1 CYP11A1
7 conn's syndrome 29.6 POMC CYP21A2 CYP17A1 CYP11A1
8 adrenal cortical carcinoma 29.6 POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
9 hyperandrogenism 29.5 POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
10 adrenal hypoplasia, congenital 29.4 STAR POMC NR0B1 HSD3B2
11 gynecomastia 29.4 POMC HSD17B3 CYP21A2
12 hypospadias 29.2 HSD3B2 HSD17B3 CYP17A1 CYP11A1
13 adrenal carcinoma 29.0 STAR POMC HSD3B2 CYP21A2 CYP17A1 CYP11A1
14 pseudohermaphroditism 28.5 STAR POMC NR0B1 HSD3B2 HSD17B3 CYP17A1
15 cryptorchidism, unilateral or bilateral 28.2 STAR POMC NR0B1 HSD3B2 HSD17B3 CYP17A1
16 lipoid congenital adrenal hyperplasia 27.2 STAR POR POMC NR0B1 HSD3B2 FDX1
17 adrenogenital syndrome 12.6
18 achard thiers syndrome 11.3
19 adenoma 10.4
20 premature ovarian failure 7 10.2
21 hermaphroditism 10.2
22 autoimmune polyendocrine syndrome 10.2 CYP21A2 CYP11A1
23 polyendocrinopathy 10.2 CYP17A1 CYP11A1
24 adrenal cortical adenocarcinoma 10.2
25 infertility 10.2
26 systemic lupus erythematosus 10.1
27 hydrops, lactic acidosis, and sideroblastic anemia 10.1
28 myoma 10.1
29 seminoma 10.1
30 lupus erythematosus 10.1
31 diabetes mellitus 10.1
32 malakoplakia 10.1
33 vaginal atresia 10.1
34 primary adrenal insufficiency 10.1
35 dowling-degos disease 1 10.1
36 smith-lemli-opitz syndrome 10.0 STAR CYP17A1 CYP11A1
37 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.0 POMC CYP21A2
38 transsexualism 10.0 CYP21A2 CYP17A1
39 autoimmune hepatitis type 2 10.0 CYP21A2 CYP17A1 CYP11A1
40 hypoglycemia 10.0
41 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.0 CYP21A2 CYP17A1 CYP11A1
42 laryngeal tuberculosis 9.9 POMC CYP21A2
43 acute adrenal insufficiency 9.9 POMC CYP21A2 CYP11A1
44 testicular leydig cell tumor 9.9 NNT CYP21A2
45 pseudohypoaldosteronism, type i, autosomal recessive 9.9 HSD3B2 CYP21A2
46 acanthosis nigricans 9.9
47 neurofibromatosis, type ii 9.9
48 cornelia de lange syndrome 1 9.9
49 fibrosis of extraocular muscles, congenital, 1 9.9
50 hyperlipoproteinemia, type iv 9.9

Graphical network of the top 20 diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:



Diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete

Symptoms & Phenotypes for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Human phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

58 31 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 58 31 hallmark (90%) Very frequent (99-80%) HP:0001274
2 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypotension 58 31 hallmark (90%) Very frequent (99-80%) HP:0002615
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
6 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
7 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
8 dehydration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001944
9 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
10 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
11 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
12 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
13 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
14 hyponatremia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002902
15 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
16 male pseudohermaphroditism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000037
17 hyperkalemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002153
18 neonatal hypoglycemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001998
19 ambiguous genitalia, male 58 31 hallmark (90%) Very frequent (99-80%) HP:0000033
20 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
21 renal salt wasting 58 31 hallmark (90%) Very frequent (99-80%) HP:0000127
22 aplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000151
23 increased circulating renin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000848
24 acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001941
25 decreased circulating aldosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004319
26 increased circulating acth level 58 31 hallmark (90%) Very frequent (99-80%) HP:0003154
27 hypernatriuria 58 31 hallmark (90%) Very frequent (99-80%) HP:0012605
28 generalized bronze hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007574
29 low maternal serum estriol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008073
30 decreased circulating cortisol level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008163
31 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
32 abnormality of the leydig cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0010789
33 hypovolemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011106
34 adrenocorticotropic hormone excess 58 31 hallmark (90%) Very frequent (99-80%) HP:0011749
35 sex reversal 58 31 hallmark (90%) Very frequent (99-80%) HP:0012245
36 abnormal urine potassium concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012598
37 decreased circulating androgen level 58 31 hallmark (90%) Very frequent (99-80%) HP:0030349
38 induced vaginal delivery 58 31 hallmark (90%) Very frequent (99-80%) HP:0030369
39 abnormal circulating cholesterol concentration 31 hallmark (90%) HP:0003107
40 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
41 adrenal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000835
42 elevated circulating follicle stimulating hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0008232
43 elevated circulating luteinizing hormone level 58 31 frequent (33%) Frequent (79-30%) HP:0011969
44 midshaft hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0012854
45 clitoral hypertrophy 31 occasional (7.5%) HP:0008665
46 reduced bone mineral density 58 Very frequent (99-80%)
47 primary adrenal insufficiency 58 Very frequent (99-80%)
48 hyperaldosteronism 31 HP:0000859
49 generalized hyperpigmentation 58 Very frequent (99-80%)
50 abnormality of the vagina 58 Occasional (29-5%)

Clinical features from OMIM:

613743

GenomeRNAi Phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.86 CYP11A1 CYP17A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.86 CYP11A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.86 FDX1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-137 9.86 FDX1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.86 CYP11A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.86 FDX1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.86 FDX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.86 CYP11A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.86 CYP17A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-196 9.86 CYP11A1 CYP17A1 FDX1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.86 FDX1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.86 CYP11A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.86 CYP17A1
14 Reduced mammosphere formation GR00396-S 9.02 CYP21A2 HSD3B2 NR0B1 POMC STAR

Drugs & Therapeutics for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Drugs for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
2
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
3
Cosyntropin Approved Phase 4 16960-16-0 16129617
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
7
Cortisone Experimental Phase 4 53-06-5 222786
8 Hydrocortisone hemisuccinate Phase 4
9 Hydrocortisone 17-butyrate 21-propionate Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Micronutrients Phase 4
12 Vitamins Phase 4
13 Trace Elements Phase 4
14 Nutrients Phase 4
15 Ergocalciferols Phase 4
16 Calciferol Phase 4
17 Vitamin D2 Phase 4
18 Endothelial Growth Factors Phase 4
19 Mitogens Phase 4
20 Angiogenesis Inducing Agents Phase 4
21
Sodium citrate Approved, Investigational Phase 3 68-04-2
22
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
23
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
24
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
25
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
26
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
27
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
28
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
29 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
30
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
31
Enclomiphene Investigational Phase 3 15690-57-0
32
Prednisolone hemisuccinate Experimental Phase 3 2920-86-7
33 Anesthetics Phase 2, Phase 3
34 Hormone Antagonists Phase 2, Phase 3
35 Estrogens Phase 3
36 Estrogen Receptor Antagonists Phase 3
37 Estrogen Antagonists Phase 3
38 Pharmaceutical Solutions Phase 2, Phase 3
39 Fertility Agents Phase 3
40 Zuclomiphene Phase 3
41 Selective Estrogen Receptor Modulators Phase 3
42 Citrate Phase 3
43 Anticoagulants Phase 3
44 Chelating Agents Phase 3
45 Clomiphene Phase 3
46 Raloxifene Hydrochloride Phase 3
47 Estrogen Receptor Modulators Phase 3
48 Progestins Phase 2, Phase 3
49 Autonomic Agents Phase 3
50 glucocorticoids Phase 3

Interventional clinical trials:

(show top 50) (show all 79)
# Name Status NCT ID Phase Drugs
1 Determination of Method-specific Normal Cortisol and Adrenal Hormone Responses to the Short Synacthen Test Completed NCT00851942 Phase 4 Synacthen (Tetracosactrin)
2 The Effects of Vitamin D Supplementation on Transforming Growth Factor-beta1 and Vascular Endothelial Growth Factor in Vitamin D-Deficient Women With Polycystic Ovary Syndrome: A Randomized Placebo-Controlled Trial Completed NCT02460380 Phase 4 Vitamin D3
3 Congenital Adrenal Hyperplasia: Innovative Once Daily Dual Release Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
4 Comparative Study of the Use of Glucocorticoids in the Treatment of Congenital Adrenal Hyperplasia in Its Classical Form Unknown status NCT02552251 Phase 2, Phase 3
5 A Phase III Study of Efficacy, Safety and Tolerability of Chronocort® Compared With Standard Glucocorticoid Replacement Therapy in the Treatment of Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
6 Open-label, Long-term Follow-up of Safety and Biochemical Disease Control of Infacort® in Neonates, Infants and Children With Congenital Adrenal Hyperplasia and Adrenal Insufficiency Previously Enrolled in the Infacort 003 Study Completed NCT02733367 Phase 3 Infacort®
7 Induction of Ovulation With Raloxifene or Clomiphene Citrate in Polycystic Ovarian Syndrome Completed NCT00427700 Phase 3 clomiphene citrate;raloxifene
8 Extended Clomiphene Citrate Regimen Versus Laparoscopic Ovarian Drilling for Ovulation Induction in Clomiphene Citrate-resistant Women With Polycystic Ovary Syndrome Completed NCT02381184 Phase 2, Phase 3 clomiphene citrate
9 A Phase III Extension Study of Efficacy, Safety and Tolerability of Chronocort® in the Treatment of Congenital Adrenal Hyperplasia Active, not recruiting NCT03062280 Phase 3 Hydrocortisone
10 An Open-label, Randomized, Titration-blinded, Phase III Study of Efficacy, Safety and Tolerability Of Chronocort® Compared With Standard Glucocorticoid REeplacement Therapy in the Treatment of Participants Aged 16 Years and Over With Congenital Adrenal Hyperplasia Suspended NCT03532022 Phase 3 Chronocort®;Standard Care
11 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
12 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
13 A Phase 2, Multicenter Study of ATR-101 for the Treatment of Congenital Adrenal Hyperplasia Completed NCT02804178 Phase 2 ATR-101
14 A Pilot Study Assessing the Use of Continuous Subcutaneous Hydrocortisone Infusion in the Treatment of Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
15 Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets Completed NCT00000102 Phase 1, Phase 2 Nifedipine
16 A Phase 2 Pilot Study to Characterize and Examine the Pharmacokinetics and Disease Bio-marker Response of Chronocort® in Adults With Congenital Adrenal Hyperplasia Completed NCT01735617 Phase 2 Hydrocortisone Modified Release Capsules
17 A Phase 2, Multiple-Dose, Dose-Escalation Study to Evaluate the Safety and Efficacy of SPR001 in Adults With Classic Congenital Adrenal Hyperplasia (CAH) Completed NCT03257462 Phase 2 SPR001
18 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone
19 A Phase 2, Open Label, Crossover Pharmacokinetic and Pharmacodynamic Study to Compare Chronocort Versus Cortef in Patients With CAH Completed NCT00519818 Phase 1, Phase 2 Chronocort;Cortef
20 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Pediatric Subjects With Congenital Adrenal Hyperplasia Recruiting NCT04045145 Phase 2 NBI-74788
21 A Phase 2, Open-Label, Multiple-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-74788 in Adult Subjects With Congenital Adrenal Hyperplasia Recruiting NCT03525886 Phase 2 NBI-74788
22 A Multicenter Dose-Titration Open-Label Study of Nevanimibe Hydrochloride for the Treatment of Classic Congenital Adrenal Hyperplasia Recruiting NCT03669549 Phase 2 Nevanimibe hydrochloride
23 Comparison of Metformin and Pioglitazone in Regulating Menstrual Irregularities and Hyperandrogenism Recruiting NCT03757923 Phase 1, Phase 2 TAB METFORMIN;TAB PIOGLITAZONE
24 An Open, Randomized, Long-Term Clinical Trial of Flutamide, Testolactone, and Reduced Hydrocortisone Dose vs. Conventional Treatment of Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT00001521 Phase 2 Flutamide;Letrozole
25 A 3-Month Phase 2 Study to Evaluate the Safety and Efficacy of SPR001 in Subjects With Classic Congenital Adrenal Hyperplasia Active, not recruiting NCT03687242 Phase 2 SPR001
26 A Phase 1-2 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Not yet recruiting NCT03548246 Phase 2 Abiraterone acetate;Placebo;Hydrocortisone;Fludrocortisone
27 Calcium Channel Blockade in Primary Aldosteronism Not yet recruiting NCT04179019 Phase 2 Amlodipine
28 Luteal Phase Versus Follicular Phase Administration of Clomiphene Citrate in PCOS, A Randomized Controlled Trial Unknown status NCT02024984 Phase 1 Clomiphene Citrate
29 An Open Label, Randomised, Single Dose, 3-period Crossover Study in Healthy Volunteers to: a) Compare the Pharmacokinetics of Chronocort® Formulations Versus Immediate Release Hydrocortisone, and (b) Determine the Dose Proportionality of Chronocort® Formulations Completed NCT03019614 Phase 1 Hydrocortisone;Chronocort
30 A Two-part Open Label, Randomised, Single Dose, Crossover Study in Healthy Volunteers to: (Part A) Compare the Pharmacokinetics of up to 6 Chronocort® Formulations, and (Part B) Determine the Dose Proportionality of a Selected Chronocort® Formulation at Three Dose Levels With an Additional Comparison With the Selected Formulation Dosed on Two Occasions Over a 24 Hour Period Completed NCT03051893 Phase 1 Chronocort
31 An Open-Label, Multiple-Dose, Dose-Finding Study of Abiraterone Acetate in Adult Women With 21-Hydroxylase Deficiency Completed NCT01495910 Phase 1 Abiraterone acetate
32 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
33 A Phase 1 Multi-Center Study to Assess the Efficacy and Safety of Abiraterone Acetate as Adjunctive Therapy in Pre-Pubescent Children With Classic 21-Hydroxylase Deficiency Recruiting NCT02574910 Phase 1 Abiraterone acetate
34 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
35 An Adult Height Prediction Model for Congenital Adrenal Hyperplasia From a National Cohort (OPALE Model Study) Unknown status NCT03162159
36 Multicentric Evaluation of in Utero Dexamethasone (DEX) on the Cognitive Development of Children at Risk of Congenital Adrenal Hyperplasia Unknown status NCT02795871
37 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
38 Long-Term Outcome in Offspring and Mothers of Dexamethasone-Treated Pregnancies at Risk for Classical Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency Unknown status NCT00617292
39 Evaluation of Adrenocortical Functions by Insulin Tolerance Test and Sodium Depletion in Women With Nonclassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Comparison With Healthy Volunteers. Unknown status NCT01862380
40 Potential Modulatory Role of Osteoprotegerin in Bone Metabolism of Patients With 21-Hydroxylase Deficiency Unknown status NCT00694525
41 Prevalence of Mutations of Glucocorticoid Receptors in Bilateral Adrenal Hyperplasia Unknown status NCT02810496
42 Descriptive, Transversal Study of Evaluation of Cardiovascular Risks Factors and Prevalence of Metabolic Syndrome in the Different Phenotypes of Women With Polycystic Ovary Syndrome Unknown status NCT00784615
43 Effects of Pioglitazone in Glucocorticoid-Induced Insulin Resistance. Studies in Congenital Adrenal Hyperplasia. Completed NCT00151710 Pioglitazone
44 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
45 Cross-Sectional Multi-Centre Study of UK Adults With Congenital Adrenal Hyperplasia. Completed NCT00749593
46 Evaluation of Cardiovascular Risk Profile in Adult Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency Diagnosed During Childhood Completed NCT01807364
47 Evaluation of the Adult Height Gain With Growth Hormone Treatment in Children With Congenital Adrenal Hyperplasia (CDAH), Using the OPALE Prediction Model Completed NCT03162172
48 "Gender Development in Early Adolescence: Prenatal Hormones and Family Socialization" Completed NCT01184651
49 A Novel Therapeutic Modality for Congenital Adrenal Hyperplasia Completed NCT00529841 Hydrocortisone sodium acetate
50 Clinical Evaluation of the xMAP® NeoPlex4™ Assay for Detection of T4, TSH, 17-OHP and IRT Using the NeoPlex System Completed NCT01488721

Search NIH Clinical Center for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Hydrocortisone
hydrocortisone acetate
HYDROCORTISONE ACETATE PWDR
HYDROCORTISONE ACETONIDE
Hydrocortisone butyrate
hydrocortisone cypionate
hydrocortisone probutate
HYDROCORTISONE PWDR
Hydrocortisone sodium phosphate
Hydrocortisone sodium succinate
hydrocortisone valerate
HYDROCORTISONE,NONSTERILE PWDR

Cochrane evidence based reviews: adrenogenital syndrome

Genetic Tests for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Genetic tests related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

# Genetic test Affiliating Genes
1 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 29 CYP11A1

Anatomical Context for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

MalaCards organs/tissues related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

40
Ovary, Adrenal Gland, Endothelial, Bone, Testes, Brain, Skin

Publications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Articles related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

(show all 18)
# Title Authors PMID Year
1
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. 61 56 6
21159840 2011
2
A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. 61 56 6
19116240 2009
3
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. 61 56 6
18182448 2008
4
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. 56 6
16705068 2006
5
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. 56 6
15507506 2005
6
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. 56 6
12161514 2002
7
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. 56 6
11502818 2001
8
Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme. 56
7682938 1993
9
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis. 61
31917682 2020
10
Characterization of the CYP11A1 Nonsynonymous Variant p.E314K in Children Presenting With Adrenal Insufficiency. 61
30299480 2019
11
Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1. 61
29566378 2018
12
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic. 61
27008691 2016
13
Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure. 61
23158025 2013
14
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. 61
23337730 2013
15
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia. 61
21164259 2011
16
P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review. 61
8855637 1996
17
Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. 61
1611996 1992
18
Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia). 61
1668380 1991

Variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

ClinVar genetic disease variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP11A1 CYP11A1, 6-BP INSinsertion Pathogenic 17516
2 CYP11A1 NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp)SNV Pathogenic 17517 rs72547508 15:74632028-74632028 15:74339687-74339687
3 CYP11A1 NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val)SNV Pathogenic 17518 rs121912811 15:74637444-74637444 15:74345103-74345103
4 CYP11A1 CYP11A1, 1-BP DEL, 835Adeletion Pathogenic 17519
5 CYP11A1 NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val)SNV Pathogenic 17520 rs121912812 15:74632009-74632009 15:74339668-74339668
6 CYP11A1 CYP11A1, 1-BP INS, IVS3, Tinsertion Pathogenic 17521
7 CYP11A1 NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp)SNV Pathogenic 17522 rs121912813 15:74640244-74640244 15:74347903-74347903
8 CYP11A1 NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu)SNV Pathogenic 17523 rs121912814 15:74631102-74631102 15:74338761-74338761
9 CYP11A1 NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro)SNV Pathogenic 29625 rs387906601 15:74636294-74636294 15:74343953-74343953
10 CYP11A1 NM_000781.3(CYP11A1):c.968T>A (p.Met323Lys)SNV Likely pathogenic 280943 rs886041121 15:74635340-74635340 15:74342999-74342999
11 CYP11A1 NM_000781.3(CYP11A1):c.366C>T (p.Leu122=)SNV Conflicting interpretations of pathogenicity 317130 rs530494910 15:74640300-74640300 15:74347959-74347959
12 CYP11A1 NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile)SNV Conflicting interpretations of pathogenicity 317132 rs143655263 15:74659692-74659692 15:74367351-74367351
13 CYP11A1 NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)SNV Conflicting interpretations of pathogenicity 372354 rs6161 15:74635368-74635368 15:74343027-74343027
14 CYP11A1 NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)deletion Conflicting interpretations of pathogenicity 631742 rs1567053134 15:74637501-74637502 15:74345160-74345161
15 CYP11A1 NM_000781.3(CYP11A1):c.830-14C>GSNV Uncertain significance 317127 rs190239248 15:74635492-74635492 15:74343151-74343151
16 CYP11A1 NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu)SNV Uncertain significance 403725 rs1060499732 15:74635371-74635371 15:74343030-74343030
17 CYP11A1 NM_000781.3(CYP11A1):c.-35A>GSNV Uncertain significance 317135 rs886051481 15:74659961-74659961 15:74367620-74367620
18 CYP11A1 NM_000781.3(CYP11A1):c.269+4A>GSNV Uncertain significance 317131 rs199573967 15:74659654-74659654 15:74367313-74367313
19 CYP11A1 NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn)SNV Uncertain significance 317123 rs886051479 15:74631613-74631613 15:74339272-74339272
20 CYP11A1 NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu)SNV Uncertain significance 317125 rs764270391 15:74631986-74631986 15:74339645-74339645
21 CYP11A1 NM_000781.3(CYP11A1):c.93G>A (p.Arg31=)SNV Uncertain significance 317133 rs141127674 15:74659834-74659834 15:74367493-74367493
22 CYP11A1 NM_000781.3(CYP11A1):c.86G>A (p.Arg29His)SNV Uncertain significance 317134 rs150725205 15:74659841-74659841 15:74367500-74367500
23 CYP11A1 NM_000781.3(CYP11A1):c.-59A>GSNV Uncertain significance 317136 rs567971184 15:74659985-74659985 15:74367644-74367644
24 CYP11A1 NM_000781.3(CYP11A1):c.1164C>T (p.His388=)SNV Uncertain significance 317124 rs537187397 15:74631650-74631650 15:74339309-74339309
25 CYP11A1 NM_000781.3(CYP11A1):c.589G>C (p.Asp197His)SNV Uncertain significance 317128 rs886051480 15:74637421-74637421 15:74345080-74345080
26 CYP11A1 NM_000781.3(CYP11A1):c.567G>A (p.Ala189=)SNV Uncertain significance 317129 rs770022852 15:74637443-74637443 15:74345102-74345102
27 CYP11A1 NM_000781.3(CYP11A1):c.939C>T (p.Phe313=)SNV Likely benign 317126 rs4986873 15:74635369-74635369 15:74343028-74343028

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

73
# Symbol AA change Variation ID SNP ID
1 CYP11A1 p.Ala189Val VAR_016949 rs121912811
2 CYP11A1 p.Arg353Trp VAR_016951 rs72547508
3 CYP11A1 p.Leu141Trp VAR_065241 rs121912813
4 CYP11A1 p.Leu222Pro VAR_065242 rs387906601
5 CYP11A1 p.Ala359Val VAR_065243 rs121912812
6 CYP11A1 p.Val415Glu VAR_065244 rs121912814

Expression for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Search GEO for disease gene expression data for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete.

Pathways for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Pathways related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

Pathways related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 STAR POR POMC NNT HSD3B2 HSD17B3
2
Show member pathways
12.98 POR POMC FDXR FDX1 CYP21A2 CYP17A1
3
Show member pathways
12.57 STAR POMC NR0B1 HSD3B2 CYP21A2 CYP17A1
4
Show member pathways
11.67 POMC FDXR FDX1 CYP11A1
5 11.52 STAR POMC HSD3B2 CYP21A2 CYP11A1
6
Show member pathways
11.39 HSD3B2 HSD17B3 CYP17A1
7 11.31 STAR HSD3B2 CYP17A1 CYP11A1
8
Show member pathways
11.22 STAR POMC HSD3B2 HSD17B3 FDXR FDX1
9
Show member pathways
11.17 HSD3B2 HSD17B3 CYP21A2 CYP17A1 CYP11A1
10
Show member pathways
10.98 HSD17B3 CYP21A2 CYP17A1
11 10.45 FDXR FDX1

GO Terms for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Cellular components related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.65 POR HSD3B2 HSD17B3 CYP21A2 CYP17A1
2 mitochondrion GO:0005739 9.5 STAR POR NNT HSD3B2 FDXR FDX1
3 mitochondrial inner membrane GO:0005743 9.46 NNT HSD3B2 FDXR CYP11A1
4 intracellular membrane-bounded organelle GO:0043231 9.1 POR NR0B1 HSD3B2 HSD17B3 CYP21A2 CYP17A1

Biological processes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.87 HSD17B3 FDXR FDX1 CYP11A1
2 steroid metabolic process GO:0008202 9.77 FDXR FDX1 CYP21A2 CYP17A1 CYP11A1
3 cholesterol metabolic process GO:0008203 9.73 STAR FDXR FDX1 CYP11A1
4 sterol metabolic process GO:0016125 9.62 FDXR FDX1 CYP21A2 CYP11A1
5 oxidation-reduction process GO:0055114 9.61 POR NNT HSD3B2 HSD17B3 FDXR FDX1
6 cellular response to cAMP GO:0071320 9.58 STAR FDX1
7 generation of precursor metabolites and energy GO:0006091 9.58 POMC FDXR
8 androgen biosynthetic process GO:0006702 9.58 HSD3B2 HSD17B3 CYP17A1
9 cellular response to peptide hormone stimulus GO:0071375 9.56 POR CYP11A1
10 C21-steroid hormone biosynthetic process GO:0006700 9.56 STAR FDXR FDX1 CYP11A1
11 response to corticosterone GO:0051412 9.55 STAR HSD3B2
12 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.54 STAR POR
13 hormone biosynthetic process GO:0042446 9.52 FDX1 CYP17A1
14 cellular response to gonadotropin stimulus GO:0071371 9.51 STAR POR
15 testosterone biosynthetic process GO:0061370 9.49 STAR HSD17B3
16 C21-steroid hormone metabolic process GO:0008207 9.48 HSD3B2 CYP11A1
17 mineralocorticoid biosynthetic process GO:0006705 9.46 HSD3B2 CYP21A2
18 glucocorticoid biosynthetic process GO:0006704 9.46 HSD3B2 CYP21A2 CYP17A1 CYP11A1
19 steroid biosynthetic process GO:0006694 9.28 STAR NR0B1 HSD3B2 HSD17B3 FDXR FDX1

Molecular functions related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.43 CYP21A2 CYP17A1 CYP11A1
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.33 CYP21A2 CYP17A1 CYP11A1
3 NADP binding GO:0050661 9.32 POR NNT
4 iron ion binding GO:0005506 9.26 FDX1 CYP21A2 CYP17A1 CYP11A1
5 oxidoreductase activity GO:0016491 9.23 POR NNT HSD3B2 HSD17B3 FDXR CYP21A2

Sources for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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