| Constitutional Delay of Growth & Puberty (CDGP) |
Most common male etiology65-80% referral cases. |
Most frequent cause overall.Diagnosed less frequently than in boys. |
| Functional / Transient Hypogonadotropic Hypogonadism |
Systemic:Nutritional:- Malnutrition
- severe weight loss
- anorexia nervosa
- excessive physical training
Endocrine: |
Systemic:Nutritional:- Malnutrition
- severe weight loss
- anorexia nervosa
- excessive physical training
Endocrine: |
| Permanent Central Hypogonadotropic Hypogonadism |
- Kallmann syndrome
- Normosmic IHH
- Multiple Pituitary Hormone Deficiencies (MPHD)
- CNS lesions:
- Craniopharyngiomas
- germinomas
- gliomas
- irradiation
- trauma
- infiltrative diseases
- Defects:
- Syndromes:
- Prader-Willi
- Laurence-Moon-Biedl
- CHARGE
|
- Kallmann syndrome
- Normosmic IHH
- Multiple Pituitary Hormone Deficiencies (MPHD)
- CNS lesions:
- Craniopharyngiomas
- germinomas
- gliomas
- irradiation
- trauma
- infiltrative diseases
- Defects:
- Syndromes:
- Prader-Willi
- Laurence-Moon-Biedl
- CHARGE
|
| Hypergonadotropic Hypogonadism (Primary Gonadal Failure) |
Klinefelter syndrome (47,XXY) (most common)Structural:- Congenital anorchia
- cryptorchidism
- Noonan syndrome
Enzymatic:- StAR
- CYP17A1
- HSD17B3 mutations
Acquired:- Torsion
- trauma
- viral/autoimmune orchitis
- chemotherapy
- irradiation
|
Turner syndrome (45,X/variants) (most common)Dysgenesis:- 46,XX pure gonadal (Perrault)
- 46,XY gonadal (Swyer)
Enzymatic:- Aromatase deficiency
- 17-alpha-hydroxylase/17,20-lyase deficiency
- Savage syndrome
Acquired:- Cytotoxic chemotherapy
- irradiation
- autoimmune oophoritis
- galactosemia
|
| Structural / End-Organ Abnormalities (Eugonadism) |
Not applicable. |
Normal ovarian endocrine functionPrimary amenorrhea via anatomical defectsMayer-Rokitansky-Kuster-Hauser syndromeObstructive anomalies:- imperforate hymen
- complete transverse vaginal septum
Complete Androgen Insensitivity Syndrome (CAIS) |