| Disease (gene) | Associated clinical features |
| Primary hypogonadism |
| Congenital adrenal hyperplasia | - Autosomal recessive inheritance
|
| | - Hypogonadism (atypical genitalia, undervirilization)
- Cortisol deficiency (fatigue, nausea, vomiting)
- Aldosterone deficiency (hypotension, volume depletion, hyperkalemia, metabolic acidosis)
|
| | - Hypogonadism (atypical genitalia, absence of secondary sexual characteristics)
- Cortisol deficiency (fatigue, nausea, vomiting)
- Hypertension
|
| | - Severe undervirilization
- Cortisol deficiency (fatigue, nausea, vomiting)
|
| Secondary hypogonadism |
| Congenital hypogonadotropic hypogonadism (FGFR1, KISS1, KISS1R, and others) | - Autosomal dominant or recessive inheritance
- Hypogonadotropic hypogonadism
|
| Kallmann syndrome 1 (KAL1) | - X-linked inheritance
- Hypogonadotropic hypogonadism
- Anosmia/hyposmia
|
| Increased aromatase |
| Aromatase excess syndrome (CYP19A1) | - Autosomal dominant inheritance
- Prepubertal/peripubertal gynecomastia
- Accelerated early linear growth
- Testicular failure
|
| Carney complex (PRKAR1A) | - Autosomal dominant inheritance
- Prepubertal/peripubertal gynecomastia
- Multiple lentigines
- Atrial and mucocutaneous myxomas
- Blue nevi
|
| Peutz-Jeghers syndrome (STK11) | - Autosomal dominant inheritance
- Prepubertal gynecomastia
- Mucocutaneous pigmentation
- Multiple hamartomatous polyps in GI tract
|
| Androgen receptor defect |
| Androgen insensitivity syndrome (AR) | - X-linked inheritance
- Atypical genitalia
- Undervirilization
|
| Spinal and bulbar muscular atrophy (AR [expanded CAG repeats]) | - X-linked inheritance
- Atypical genitalia
- Undervirilization
- Muscle fasciculations
- Weakness
- Calf hypertrophy
|
