congenital hypogonadotropic hypogonadism
MONDO:0015770Mondo
Findings
No curated finding names congenital hypogonadotropic hypogonadism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder of sexual maturation characterized by gonadotropin (Gn) deficiency with low sex steroid levels associated with low levels of follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Definition from the Mondo Disease Ontology (MONDO:0015770), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ARHGAP35HGNC:4591
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (25)
- ANE syndrome
- arhinia, choanal atresia, and microphthalmia
- ataxia-hypogonadism-choroidal dystrophy syndrome
- brachytelephalangy-dysmorphism-Kallmann syndrome
- cerebellar ataxia-hypogonadism syndrome
- CHARGE syndrome
- combined pituitary hormone deficiencies, genetic form
- familial adrenal hypoplasia with absent pituitary luteinizing hormone
- hypogonadotropic hypogonadism 7 with or without anosmia
- hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
- hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- isolated congenital hypogonadotropic hypogonadism
- Kallmann syndrome-heart disease syndrome
- Laurence-Moon syndrome