ORPHA:755
Leydig cell hypoplasia
Synonyms: 46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency · 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
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare 46,XY difference of sex development due to impaired androgen production characterized by impaired normal male sexual development. The severity of the disorder varies and can manifest in its severe form with complete 46,XY male pseudohermaphroditism, including low testosterone and high luteinizing hormone levels, absent development of secondary male sex characteristics and lack of breast development. Patients with the milder form can have a wider range of phenotypes, ranging from micropenis to severe hypospadias.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leydig cell hypoplasia | 46,XY DSD due to LH resistance or LHB deficiency · 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency · 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 |
| fr | Hypoplasie des cellules de Leydig | ADS 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta · ADS 46,XY par résistance à la LH ou déficit en LHB · Anomalie du développement sexuel 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta · Anomalie du développement sexuel 46,XY par résistance à la LH ou déficit en LHB · DSD 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta · DSD 46,XY par résistance à la LH ou déficit en LHB |
| de | Leydig-Zell-Hypoplasie | 46,XY DSD durch LH-Resistenz oder LHB-Mangel · Störung der Geschlechtsentwicklung 46,XY, durch LH-Resistenz oder LHB-Mangel · Störung der Geschlechtsentwicklung 46,XY, durch Resistenz des luteinisierenden Hormons oder Mangel der Luteinisierendes-Hormon-beta-Untereinheit |
| es | Hipoplasia de células de Leydig | TDS 46,XX por resistencia a LH o por deficiencia de LHB · TDS 46,XX por resistencia a la hormona luteinizante o por deficiencia de la subunidad beta de la hormona luteinizante · Trastorno del desarrollo sexual 46,XX por resistencia a LH o por deficiencia de LHB · Trastorno del desarrollo sexual 46,XX por resistencia a la hormona luteinizante o por deficiencia de la subunidad beta de la hormona luteinizante |
| it | Ipoplasia delle cellule di Leydig | DSD 46,XY da resistenza a LH o deficit di LHB · DSD 46,XY da resistenza all'ormone luteinizzante o deficit della subunità beta dell'ormone luteinizzante · Disturbo dello sviluppo sessuale 46,XY da deficit della subunità beta dell'ormone luteinizzante · Disturbo dello sviluppo sessuale 46,XY da resistenza a LH o deficit di LHB · Pseudoermafroditismo maschile da resistenza a LH o deficit di LHB · Pseudoermafroditismo maschile da resistenza all'ormone luteinizzante o deficit della subunità beta dell'ormone luteinizzante |
| nl | Hypoplasie van Leydigcellen | 46,XY-DSD door LH-resistentie of LHB-deficiëntie · 46,XY-DSD door resistentie tegen luteïniserend hormoon of door deficiëntie van luteïniserend hormoon bèta-subeenheid · 46,XY-geslachtsontwikkelingsstoornis door LH-resistentie of LHB-deficiëntie · 46,XY-geslachtsontwikkelingsstoornis door resistentie tegen luteïniserend hormoon of door deficiëntie van luteïniserend hormoon bèta-subeenheid |
| pt | Hipoplasia das células de Leydig | Pseudo-hermafroditismo masculino por deficiência na molécula de LH |
| pl | Hipoplazja komórek Leydiga | 46,XY DSD z powodu niewrażliwości na hormon luteinizujący lub Niedobór podjednostki beta hormonu luteinizującego · 46,XY DSD z powodu niewrażliwości na LH lub niedoboru LHB · 46,XY zaburzenie różnicowania płci z powodu niewrażliwości na hormon luteinizujący lub Niedobór podjednostki beta hormonu luteinizującego · 46,XY zaburzenie różnicowania płci z powodu niewrażliwości na LH lub niedoboru LHB · Pseudohermafrodytyzm męski z powodu niewrażliwości na hormon luteinizujący lub Niedobór podjednostki beta hormonu luteinizującego · Pseudohermafrodytyzm męski z powodu niewrażliwości na LH lub niedoboru LHB |
| cs | Hypoplázie Leydigových buněk | 46,XY DSD způsobená rezistencí k LH nebo deficitu LHB · 46,XY DSD způsobená rezistencí k luteinizačnímu hormonu nebo deficitu beta podjednotky luteinizačního hormonu · 46,XY porucha pohlavního vývoje způsobená rezistencí k LH nebo deficitu LHB · 46,XY porucha pohlavního vývoje způsobená rezistencí k luteinizačnímu hormonu nebo deficitu beta podjednotky luteinizačního hormonu · Mužský pseudohermafroditismus způsobený rezistencí k LH nebo deficitu LHB · Mužský pseudohermafroditismus způsobený rezistencí k luteinizačnímu hormonu nebo deficitu beta podjednotky luteinizačního hormonu |
| uk | Гіпоплазія клітин Лейдіга | 46,XY порушення статевого розвитку внаслідок резистентності до ЛГ або дефіциту ЛГБ · 46,XY порушення статевого розвитку внаслідок резистентності до лютеїнізуючого гормону або дефіциту бета-субодиниці лютеїнізуючого гормону · 46,XY DSD через резистентність до ЛГ або дефіцит ЛГБ · 46,XY МДД внаслідок резистентності до лютеїнізуючого гормону або дефіциту бета-субодиниці лютеїнізуючого гормону |
| zh | Leydig细胞发育不全 | 促黄体生成素抵抗或促黄体生成素β亚基缺乏所致46，XY性发育异常 |
| tr | Leydig hücre hipoplazisi | 46,XY LH direnci veya LHB eksikliğine bağlı DSD · 46,XY LH direnci veya LHB eksikliğine bağlı cinsiyet gelişim bozukluğu · 46,XY luteinize edici hormon direnci veya luteinize edici hormon beta alt birim eksikliğine bağlı DSD · 46,XY luteinize edici hormon direnci veya luteinize edici hormon beta alt birimi eksikliğine cinsiyet gelişimi bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 238320 | BTNT | validated | |
| ICD-10 | E34.5 | NTBT | attributed | validated |
| ICD-11 | LD2A.3 | NTBT | index | validated |
| MONDO | 0019155 | E | validated | |
| MeSH | C562567 | E | validated | |
| UMLS | C0860158 | E | validated | |
| GARD | 3244 | E | validated | |
| MedDRA | 10024406 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:32535746,XY difference of sex development due to impaired androgen production
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases; rare transplant-related disorders - ORPHA:399685Rare male infertility due to testicular endocrine disorder
rare genetic diseases; rare infertility disorders
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Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| LHCGR | ORPHA:96265Leydig cell hypoplasia due to complete LH resistance | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6585 | ENSG00000138039 | 152790 | 2p16.3 | luteinizing hormone/choriogonadotropin receptor | |
| LHCGR | ORPHA:96266Leydig cell hypoplasia due to partial LH resistance | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6585 | ENSG00000138039 | 152790 | 2p16.3 | luteinizing hormone/choriogonadotropin receptor | |
| LHB | ORPHA:325448Leydig cell hypoplasia due to LHB deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:6584 | ENSG00000104826 | 152780 | 19q13.33 | luteinizing hormone subunit beta |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | 39162678[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39162678[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
23 annotations · validated 2016-01-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000811 | Abnormal external genitalia | |
| HP:0000812 | Abnormal internal genitalia | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000151 | Aplasia of the uterus | |
| HP:0100783 | Breast aplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000134 | Female hypogonadism | |
| HP:0010790 | Hyoplasia of the Leydig cells | |
| HP:0000815 | Hypergonadotropic hypogonadism | |
| HP:0000047 | Hypospadias | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000026 | Male hypogonadism | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000054 | Micropenis | |
| HP:0000118 | Phenotypic abnormality | |
| HP:0000786 | Primary amenorrhea | |
| HP:0008193 | Primary gonadal insufficiency | |
| Occasional (29-5%) | ||
| HP:0012872 | Abnormal vas deferens morphology | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0000030 | Testicular gonadoblastoma | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 152780[PMID]_152790[PMID]_7581384[PMID]_10852464[PMID]_12050206[PMID]_23044874[PMID]_6792847[PMID]_1617805[PMID]_7719343[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/755
- This record as JSON: /data/d/755.json