isolated growth hormone deficiency

ORPHA: 631

Overview

hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones

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 isolated growth hormone deficiency, sourced from HPO and Orphanet clinical annotations.

Anterior hypopituitarismGrowth delayDelayed skeletal maturationShort statureDoll-like faciesDelayed pubertyDecreased response to growth hormone stimulation testAbnormally high-pitched voiceNeonatal hypoglycemiaDecreased muscle massDepressed nasal bridgeProlonged neonatal jaundiceSparse hairProminent foreheadAbdominal obesityDecreased circulating serum insulin-like growth factor 1 concentrationPremature skin wrinklingGenu valgumMicrophallus

Classification & Codes

Orphanet Code

ORPHA:631
isolated growth hormone deficiency
OrphanetORPHA:631
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO