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obesity due to prohormone convertase 1 deficiency

MeSH: C563423ORPHA: 71528

Contents

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

Overview

Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterised by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.

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 obesity due to prohormone convertase 1 deficiency, sourced from HPO and Orphanet clinical annotations.

ObesityIncreased adipose tissuePolyphagiaHypopigmentation of the skinCholestasisRed hairChildhood-onset truncal obesityCentral adrenal insufficiencyDelayed pubertyDecreased response to growth hormone stimulation testHyperinsulinemiaAcanthosis nigricansFailure to thriveGrowth delayHypoglycemic seizuresDelayed skeletal maturationGonadotropin deficiencyPituitary hypothyroidism

Classification & Codes

MeSH Code

C563423

Orphanet Code

ORPHA:71528
obesity due to prohormone convertase 1 deficiency
MeSHC563423
OrphanetORPHA:71528
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO