Table 3.
GONADAL DISORDERS
| Disease | Gene | H | OMIM | Phenotype |
|---|---|---|---|---|
| Androgen insensitivity May be minimally affected (MAIS), partial (PAIS) or complete (CAIS) | AR | X |
*313700 #300068 |
M: MAIS - normal genitalia, gynecomastia, infertility; PAIS - ambiguous genitalia with variable degrees of virilization, sparse pubic hair, gynecomastia; CAIS - female body habitus and external genitalia, tall stature, sparse pubic hair, absent facial hair, blind vaginal pouch, inguinal or abdominal testes, inguinal hernias F (carriers): normal genitalia, breast development and fertility; may have tall stature and sparse pubic hair |
| Aromatase deficiency | CYP19A1 | AR |
*107910 #613546 |
M: eunuchoid body proportions, tall stature, excess adipose tissue; F: virilization, amenorrhea, absent breast development, cystic ovaries; Both: fetal and maternal virilization (acne and hirsutism in mother resolves after delivery) |
| Aromatase excess syndrome | CYP19A1 | AD/AR/X |
*107910 #139300 |
M: gynecomastia, premature growth spurt, decreased adult stature; F: usually asymptomatic, may have macromastia, premature growth spurt, menstrual irregularity, short stature; Both: normal fertility |
| Estrogen resistance | ESR1 | AR |
*133430 #615363 |
M: axillary acanthosis nigricans, early coronary artery disease, hyperinsulinemia and impaired glucose tolerance; F: primary amenorrhea, absent breast development with no response to oral estrogen, small uterus, large polycystic ovaries, severe acne; Both: osteopenia, delayed bone age with continued growth into adulthood |
| 17β-Hydroxysteroid Dehydrogenase Deficiency | HSD17B3 | AR |
*605573 #264300 |
M: undervirilized external genitalia at birth, inguinal testes, virilization at puberty, gynecomastia, infertility, hypothyroidism; F: normal genitalia and breast development; possible association with pubertal-onset hirsuitism and PCOS |
| Leydig cell hypoplasia (M) Luteinizing hormone resistance (F) | LHCGR | AR |
*152790 #238320 |
M: Type 1 – female external genitalia, absent development of male secondary sex characteristics; Type 2 - milder with range of genital abnormalities; F: amenorrhea, infertility |
| McCune-Albright syndrome | GNAS1 | SM |
*139320 #174800 |
Peripheral precocious puberty, café au lait spots, polyostotic fibrous dysplasia, facial asymmetry, deafness, blindness, hyperthyroidism, hyperparathyroidism, Cushing syndrome, acromegaly, hyperprolactinemia, gastrointestinal polyps and pituitary adenomas. |
| Premature ovarian failure | FMR1 | X |
*309550 #311360 |
Amenorrhea, osteoporosis |
| DIAPH2 | U |
*300108 #300511 |
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| POF1B | U |
*300603 #300604 |
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| FOXL2 | U |
*605597 #608996 |
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| BMP15 | X |
*300247 #300510 |
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| NOBOX | U |
*610934 #611548 |
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| FIGLA | AD |
*608697 #612310 |
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| NR5A1 | U |
*184757 #612964 |
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| Testotoxicosis, familial | LHCGR | AD |
*152790 #176410 |
Male-limited, gonadotropin independent, precocious puberty (usually by age 4 years) with rapid virilization, small testes, not suppressible by gonadotropin releasing hormone analogs |
| Testotoxicosis with pseudohypoparathyroidism type 1a | GNAS | U |
*139320 #176410 |
Male-limited precocious puberty, see pseudohypoparathyroidism type 1a |
*
gene ID;
#
disease ID;
AD, autosomal dominant; AR, autosomal recessive; F, females; H, inheritance; M, males; PCOS, polycystic ovary syndrome; SM, somatic mosaic; U, inheritance unclear or unknown; X, X-linked.