obesity due to congenital leptin deficiency
ORPHA: 66628
Overview
Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia
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 congenital leptin deficiency, sourced from HPO and Orphanet clinical annotations.
Decreased CD4+ T cell proportionObesityDecreased serum leptinGynecomastiaPrimary amenorrheaHypergonadotropic hypogonadismHyperinsulinemiaPolyphagiaDecreased T cell activationAbsence of secondary sex characteristicsDecreased serum estradiolHypoplasia of the ovaryDecreased testicular sizeDecreased serum testosterone concentrationInsulin-resistant diabetes mellitusHypertriglyceridemiaRecurrent upper respiratory tract infectionsOrthostatic hypotension due to autonomic dysfunctionAccelerated skeletal maturationPituitary hypothyroidism
Classification & Codes
Orphanet Code
ORPHA:66628obesity due to congenital leptin deficiency
| Orphanet | ORPHA:66628 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO