hypergonadotropic hypogonadism-cataract syndrome
MeSH: C543092ORPHA: 2410
Overview
This syndrome is characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence. It has been described in three brothers from a consanguineous family.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hypergonadotropic hypogonadism-cataract syndrome, sourced from HPO and Orphanet clinical annotations.
CataractHypergonadotropic hypogonadismDecreased fertilityPrimary amenorrheaDelayed pubertyIncreased circulating gonadotropin levelOsteoporosisDelayed skeletal maturationAbsence of secondary sex characteristicsSecondary growth hormone deficiencyRecurrent fracturesShort statureReduced bone mineral density
Classification & Codes
MeSH Code
C543092Orphanet Code
ORPHA:2410hypergonadotropic hypogonadism-cataract syndrome
| MeSH | C543092 |
| Orphanet | ORPHA:2410 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO