Leydig cell hypoplasia

Summary

Leydig cell hypoplasia (MONDO:0019155) is a disease. A subtype of endocrine system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 23

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		70	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0000026	Male hypogonadism	Very frequent (80-99%)
HP:0000028	Cryptorchidism	Very frequent (80-99%)
HP:0000037	Male pseudohermaphroditism	Very frequent (80-99%)
HP:0000047	Hypospadias	Very frequent (80-99%)
HP:0000054	Micropenis	Very frequent (80-99%)
HP:0000062	Ambiguous genitalia	Very frequent (80-99%)
HP:0000118	Phenotypic abnormality	Very frequent (80-99%)
HP:0000134	Female hypogonadism	Very frequent (80-99%)
HP:0000151	Aplasia of the uterus	Very frequent (80-99%)
HP:0000786	Primary amenorrhea	Very frequent (80-99%)
HP:0000811	Abnormal external genitalia	Very frequent (80-99%)
HP:0000812	Abnormal internal genitalia	Very frequent (80-99%)
HP:0000815	Hypergonadotropic hypogonadism	Very frequent (80-99%)
HP:0000837	Increased circulating gonadotropin level	Very frequent (80-99%)
HP:0002750	Delayed skeletal maturation	Very frequent (80-99%)
HP:0008187	Absence of secondary sex characteristics	Very frequent (80-99%)
HP:0008193	Primary gonadal insufficiency	Very frequent (80-99%)
HP:0010790	Hyoplasia of the Leydig cells	Very frequent (80-99%)
HP:0040171	Decreased serum testosterone concentration	Very frequent (80-99%)
HP:0100783	Breast aplasia	Very frequent (80-99%)
HP:0000030	Testicular gonadoblastoma	Occasional (5-29%)
HP:0000869	Secondary amenorrhea	Occasional (5-29%)
HP:0012872	Abnormal vas deferens morphology	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Leydig cell hypoplasia
Mondo ID	MONDO:0019155
MeSH	C562567
Orphanet	755
DOID	DOID:0112259
ICD-11	472787488
UMLS	C0860158
MedGen	449533
GARD	0003244
MedDRA	10024406
Is cancer (heuristic)	no

Also known as: 46,XY disorder of sex development due to LH defects · 46,XY disorder of sex development due to LH resistance or LHB deficiency · 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency · 46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency · Leydig cell agenesis · LH resistance due to LH receptor deactivation · Male hypergonadotropic hypogonadism due to LHCGR defect · Male pseudohermaphroditism due to LH resistance or LHB deficiency · Male pseudohermaphroditism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency

Disease family

This is a subtype of endocrine system disorder. 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 body system or component › endocrine system disorder › Leydig cell hypoplasia

Related subtypes (47): autoimmune disorder of endocrine system, parathyroid gland disorder, endocrine gland neoplasm, gonadal disorder, pancreas disorder, thyroid gland disorder, pituitary gland disorder, thymus gland disorder, liver disorder, adrenal gland disorder, hyperinsulinemic hypoglycemia, non-neoplastic bile duct disorder, endocrine tuberculosis, campomelic dysplasia, polycystic ovary syndrome, dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome, genito-palato-cardiac syndrome, hypoinsulinemic hypoglycemia and body hemihypertrophy, Bamforth-Lazarus syndrome, blepharophimosis - intellectual disability syndrome, SBBYS type, Wolfram-like syndrome, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, polyendocrinopathy, pituitary deficiency, hereditary endocrine growth disease, diencephalic syndrome, muscular pseudohypertrophy-hypothyroidism syndrome, neonatal iodine exposure, disorders of vitamin D metabolism, rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome, duplication of the pituitary gland, familial hypocalciuric hypercalcemia, hypothalamic adipsic hypernatraemia syndrome, inherited obesity, beta thalassemia, thyroid hormone metabolism, abnormal, neuroendocrine disorder, NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction, parneoplastic endocrine syndrome, 17,20-lyase deficiency, isolated, 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete, 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial, disorder of GNAS inactivation, acquired hypothalamic obesity

Subtypes (2): hypogonadotropic hypogonadism 23 with or without anosmia, Leydig cell hypoplasia, type 1

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.