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46 XX gonadal dysgenesis

MeSH: D023961ORPHA: 243

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female

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 46 XX gonadal dysgenesis, sourced from HPO and Orphanet clinical annotations.

Gonadal dysgenesisPremature ovarian insufficiencyDecreased fertilityPrimary amenorrheaDelayed pubertyIncreased circulating gonadotropin levelDecreased serum estradiolAbnormality of secondary sexual hairOsteopeniaSparse pubic hairDelayed skeletal maturationReduced bone mineral densityOsteoporosis of vertebraeAplasia/hypoplasia of the uterusAplasia/Hypoplasia of the breastsStreak ovaryHearing impairmentSecondary amenorrheaAbnormality of metabolism/homeostasisShort statureMicrocephalyArachnodactylyAtaxiaPulmonary fibrosis

Classification & Codes

MeSH Code

D023961

Orphanet Code

ORPHA:243
46 XX gonadal dysgenesis
MeSHD023961
OrphanetORPHA:243
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO