Table 4.
Studies showing outcomes in patients with 3-β hydroxysteroid dehydrogenase 2 deficiency.
| First Author/year of publication (Reference) | Country/Ethnicity | Sex | Mutation | Complication/Puberty/gonadal status |
|---|---|---|---|---|
| Parks/1971 (33) | USA | M [1] | W171X | Acne 11 years, pubic hair and gynecomastia at 12 years |
| Jänne/1974 (34) | Finland | M [1] | Premature pubarche, gynecomastia. Testosterone gel started at 9 years Normal testicular histology |
|
| Schneider/1975 (35) | USA | M [1] | Onset of puberty at 10 years, gynecomastia aged 11 years with acne, obesity Immature testis, predominantly Sertoli cells, Leydig cell hyperplasia, spermatogenic arrest |
|
| Zachman/1979 (36) | Switzerland | F [1] | Severe salt wasting crises during infancy, normal mental development Bone age delay; puberty induced. Adult height 159.5 cm |
|
| Martin/1980 | Finland | M [1] | Obesity, gynecomastia | |
| Mendonca/1987 (15) Moisan/1999 (14) |
Brazil | M [1] | A82T | 46, XY individual, initially raised as a girl, virilization during puberty; changed gender at 17 years Gonadectomy and penile surgery at 7 years; Induced puberty; normal testicular histology |
| Rheaume/1992 (27) | Switzerland USA |
F [1] M [1] |
W171X W171X/186insC-fs |
Lack of spontaneous breast development, virilization Spontaneous puberty at 13 years, gynecomastia; normal spermatogenesis Fathered two children (but no genetic confirmation) |
| Chang/1993 (37) Moisan/1999 (14) |
USA | F [1] M [1] |
G129r/c6651G>A | Breast development 10 years, menarche at 12 years; adult height 158 cm; irregular menses, hirsutism; bilateral enlarged ovaries, multiple cysts (PCOS) Androgen excess, advanced bone age |
| Yoshimoto/1997 (38) | Japan | M [1] | R249X | Gynecomastia at 7.5 years, Normal pubertal development; no mature spermatogenesis |
| Alos/2000 (39) Moisan/1999 (14) |
French Canadian | F [1] M [1] |
A10E | Advanced puberty and bone age at 8 years. Menarche at 10.3 y; enlarged ovaries with multiple cysts Pubic hair at 10 years; G2 at 10.5 years; TART; azoospermia |
| BinAbbas/2004 (40) | Saudi Arabia | M [1] F [1] |
Normal puberty; adult height 155 cm; normal sperm count Normal puberty at 14 years, adult height 150 cm; mild hirsutism, menstrual irregularities. |
|
| Burckhardt/2015 (41) | Canada/Sri Lanka | M [1] | c.687del27 | Cerebral palsy, psychomotor retardation, dyskinetic movement disorder Normal puberty; gynecomastia; spermatogenic arrest (Sertoli cells only) |
| Lolis/2018 (42) | Sweden | M [1] | Cys-72-Arg | Cryptorchidism. Spontaneous puberty with advanced bone age. Extensive bilateral TARTs from 13 years, mimicking Leydig cell tumor; azoospermia. Adult height 174.5 cm (−2 DS/TH). Cushingoid with obesity and osteoporosis |
| Falhammar/2012 (43) | Sweden | M [1] | TART, azoospermia | |
| Donadille/2018 (1) | France | M [1] | 687 del27 | Normal puberty; normal sperm count; adult height 170 cm |
| Benkert/2015 (11) | USA/Amish | M (2), F (3) | c.35G>A | TART (2 M), PCOS with irregular menses (2 F), obesity (5), early puberty [4] with advanced bone age, hirsutism/acne (5), ischemic encephalopathy (1) |
| Guran/2020 (12) | Turkey | F [5] M [9] |
p.N323D, p.S218P p.W355R |
Premature pubarche (F = 5), non-progressive precocious puberty (1 F); central precocious puberty (2F), menarche at 12 years (2F), PCOS (1 F) Premature pubarche (M = 9), non-progressive precocious puberty (2 M), Tanner G5 (3 M) at 14.6, 15.6, and 17 (partial gonadal insufficiency), TART (2 M) |
| Ladjouze/2022 (44) | Algeria | F [8] M [6] |
p.Pro222Gln | Premature pubarche (3 F), menarche at a normal age (4 F), ART (3 F), OART (1 F), PCOS (3 F), Obesity (1 F) Premature pubarche (2 M), spontaneous puberty (1 M). TART (2 M), learning disability (2 M), obesity (2 M) |
FH, Final Height; TART, Testicular adrenal rest tumor; ART, Adrenal rest tumor, OART, Ovarian adrenal rest tumor; PCOS, Polycystic ovary syndrome.