1 |
46, XX DISORDER OF SEX DEVELOPMENT IN A 66-YEAR-OLD MAN.
38
|
LaChance DP...Hoang TD
|
31013161
|
2019 |
2 |
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype.
38
|
Tallapaka K...Aggarwal S
|
29575617
|
2018 |
3 |
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association.
38
|
Du YT...Ho JT
|
30087777
|
2018 |
4 |
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.
38
|
Kim GJ...Scherer G
|
25604083
|
2015 |
5 |
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.
38
|
Reisch N...Krone N
|
23940125
|
2013 |
6 |
A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance.
38
|
Ryan NA...Akbar S
|
23290744
|
2013 |
7 |
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
38
|
Benko S...Lyonnet S
|
22051515
|
2011 |
8 |
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene.
38
|
Hauri-Hohl A...Biason-Lauber A
|
21521281
|
2011 |
9 |
MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female.
38
|
Brandao MP...Mendonca BB
|
21691970
|
2011 |
10 |
Laparoscopic surgery in 46,XX disorder of sex development: hysterosalpingectomy with gonadectomy.
38
|
de Lima GR...Gonzaga-Silva LF
|
20001739
|
2010 |
11 |
A 5-year-old boy with cryptorchidism and pubic hair: investigation and management of apparent male disorders of sex development in mid-childhood.
38
|
Keir LS...Ahmed SF
|
19153514
|
2009 |
12 |
Age-specific changes in sex steroid biosynthesis and sex development.
38
|
Krone N...Arlt W
|
17875487
|
2007 |