hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

MeSH: C538075ORPHA: 2235

Available Treatments (0)

No treatments linked yet

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Clinical Presentation

Signs and symptoms associated with hypogonadotropic hypogonadism-retinitis pigmentosa syndrome, sourced from HPO and Orphanet clinical annotations.

Hypogonadotropic hypogonadismRod-cone dystrophyPigmentary retinopathyDecreased fertilityPrimary amenorrheaDelayed pubertyAnterior hypopituitarismOsteoporosisDelayed skeletal maturationGonadotropin-releasing hormone deficiencyBreast hypoplasiaAbsence of secondary sex characteristicsReduced circulating prolactin concentrationSecondary growth hormone deficiencyHypoplasia of the ovaryAbnormality of the dentitionObesityRecurrent fracturesShort statureReduced bone mineral density

Classification & Codes

MeSH Code

C538075

Orphanet Code

ORPHA:2235
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
MeSHC538075
OrphanetORPHA:2235
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome | OrphanDrug