Isolated hypogonadotropic hypogonadism (IHH) | |
Anosmic form of IHH (Kallmann syndrome [KS]) | Mutated Gene |
ANOS1 formerly KAL1 (X-linked recessive) | |
SEMA3A (Autosomal Dominant) | |
SOX10 (Autosomal Dominant) | |
IL17RD (Autosomal Dominant) | |
FEZF1 (Autosomal Recessive) | |
Normosmic form of IHH | Mutated Gene |
KISS1R (Autosomal Recessive) | |
KISS1 (Autosomal Recessive) | |
GNRHR (Autosomal Recessive) | |
GNRH1 (Autosomal Recessive) | |
TAC3 and TAC3R (Autosomal Recessive) | |
Anosmic and Normosmic forms of IHH | Mutated Gene |
PROK2 and PROKR2 (Autosomal Recessive) | |
FGF8 (Autosomal Dominant) | |
FGFR1 (Autosomal Dominant) | |
CHD7 (Autosomal Dominant) | |
HS6ST1 (Oligogenic Inheritance together with FGFR1 and NSMF) | |
FGF17 (Oligogenic Inheritance together with IL17RD, DUSP6, SPRY4, and FLRT3) | |
NSMF (Oligogenic Inheritance together with FGFR1 and HS6ST1) | |
DUSP6 (Oligogenic inheritance) | |
SPRY4 (Oligogenic inheritance with DUSP6 and FGFR1) | |
RFLT3 (Oligogenic inheritance with FGF17, HS6ST1, and FGFR1) | |
WDR11(Oligogenic inheritance) | |
AXL (Oligogenic inheritance) | |
Digenic Anosmic forms of IHH | Mutated genes |
Heterozygous mutation FGFR1 and Heterozygous deletion NSMF | |
Digenic Normosmic forms of IHH | Mutated genes |
Compound heterozygous mutation of GNRHR and heterozygous mutation FGFR1 | |
IHH associated with obesity | Mutated genes |
Leptin or leptin receptor mutations | LEP, LEPR |
IHH associated with Mental Retardation | Genetic Abnormality |
Prader Willi Syndrome (PWS) | Loss of paternal copy of the PWS "critical region” on chromosome 15q11.2-13 |
IHH associated with ß-subunit mutations | Genetic Abnormality |
ß-subunit of LH | |
ß-subunit of FSH | |
Deficiencies of multiple pituitary hormones | Pituitary gland differentiation genes |
LHX3, LHX4, HESX1, and PROP-1 | |
Acquired causes of secondary hypogonadism | |
Suppression of gonadotropins release | Conditions leading to suppression of gonadotropin release |
Hyperprolactinemia | |
Exogenous sex steroids | |
Opioid induced hypogonadism | |
Therapeutic use of GnRH agonists | |
Acute critical illness | |
Chronic illness (COPD, CHF, cirrhosis, AIDS, ESRD) | |
T2DM | |
Obesity | |
Anorexia nervosa | |
Chronic glucocorticoid treatment | |
Damage to gonadotrophs | Conditions leading to damage of gonadotrophs |
Pituitary adenoma/cyst/carcinoma | |
Infiltrative diseases: Langerhans cell histiocytosis, hemochromatosis, sarcoidosis | |
Infectious: meningitis, tubercolosis | |
Pituitary apoplexy | |
Head trauma, traumatic brain injury | |
Idiopathic |