primary hypergonadotropic hypogonadism-partial alopecia syndrome
ORPHA: 2232
Overview
This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia
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 primary hypergonadotropic hypogonadism-partial alopecia syndrome, sourced from HPO and Orphanet clinical annotations.
Hypergonadotropic hypogonadismAlopecia of scalpPrimary gonadal insufficiencyCryptorchidismThin upper lip vermilionAbnormal eyebrow morphologyPrimary amenorrheaInfertilityImpotenceDelayed pubertyIncreased circulating gonadotropin levelOsteopeniaOsteoporosisGrowth delayAlopeciaBreast hypoplasiaMarked delay in bone ageFlat occiputSparse facial hairAbsence of secondary sex characteristicsDecreased serum estradiolAgonadismAplasia/hypoplasia of the uterusAplasia of the ovaryStreak ovaryNon-obstructive azoospermiaDecreased serum testosterone concentrationMicrocephalyMild intellectual disabilitySparse pubic hairSkeletal dysplasiaKyphosisLumbar hyperlordosisSparse eyebrowHearing impairmentTriphalangeal thumbThenar muscle atrophyDecreased palmar creasesContracture of the proximal interphalangeal joint of the 5th fingerSmall hypothenar eminenceSmall pituitary gland
Classification & Codes
Orphanet Code
ORPHA:2232primary hypergonadotropic hypogonadism-partial alopecia syndrome
| Orphanet | ORPHA:2232 |
| Treatments | 0 drug(s) |
| Symptoms on record | 41 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO