Leydig cell hypoplasia due to complete LH resistance

Summary

Leydig cell hypoplasia due to complete LH resistance (MONDO:0019930) is a disease. A subtype of Leydig cell hypoplasia, type 1 — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Leydig cell hypoplasia due to complete LH resistance
Mondo ID	MONDO:0019930
Orphanet	96265
DOID	DOID:0112260
UMLS	C5438974
MedGen	1776152
GARD	0016851
Is cancer (heuristic)	no

Also known as: 46,XY disorder of sex development due to complete LH receptor inactivation · 46,XY disorder of sex development due to complete LH resistance · 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation · 46,XY disorder of sex development due to complete luteinizing hormone resistance · 46,XY DSD due to complete LH receptor inactivation · 46,XY DSD due to complete LH resistance · 46,XY DSD due to complete luteinizing hormone receptor inactivation · 46,XY DSD due to complete luteinizing hormone resistance · Leydig cell hypoplasia due to complete LH receptor inactivation · Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation · Leydig cell hypoplasia due to complete luteinizing hormone resistance

Disease family

This is a subtype of Leydig cell hypoplasia, type 1. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Leydig cell hypoplasia, type 1 › Leydig cell hypoplasia due to complete LH resistance

Related subtypes (1): Leydig cell hypoplasia due to partial LH resistance

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.