Familial adrenal hypoplasia with absent pituitary luteinizing hormone
historical
Synonyms: Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial adrenal hypoplasia with absent pituitary luteinizing hormone | Familial adrenal hypoplasia with absent pituitary LH · Familial adrenal hypoplasia, miniature type |
| fr | Hypoplasie surrénalienne familiale sans hormone lutéinisante | Hypoplasie surrénalienne familiale sans LH · Hypoplasie surrénalienne familiale type miniature |
| de | Familiäre Nebennierenhypoplasie mit fehlendem hypophysären luteinisierenden Hormon | Familiäre Nebennierenhypoplasie mit komplettem LH-Mangel der Hirnanhangdrüse · Familiäre Nebennierenhypoplasie vom Miniatur-Typ |
| es | Hipoplasia suprarrenal familiar con ausencia de la hormona luteinizante hipofisaria | Hipoplasia suprarrenal familiar por ausencia de la LH hipofisaria · Hipoplasia suprarrenal familiar tipo miniatura |
| it | Ipoplasia familiare dei surreni in assenza di ormone luteinizzante ipofisario | Ipoplasia familiare del surrene senza LH ipofisario · Ipoplasia familiare del surrene, tipo miniatura |
| nl | Familiale adrenale hypoplasie met afwezig hypofysair luteïniserend hormoon | Familiale bijnierhypoplasie met afwezig hypofysair LH · Familiale bijnierhypoplasie met afwezig hypofysair luteïniserend hormoon · Familiale bijnierhypoplasie, miniatuur-type |
| pt | Hipoplasia supra-renal familiar com ausência de hormona luteinizante hipofisária | Hipoplasia supra-renal familiar com ausência de LH hipofisária · Hipoplasia supra-renal familiar com ausência de hormona luteinizante hipofisária · Hipoplasia supra-renal familiar, tipo miniatura |
| pl | Rodzinna hipoplazja nadnerczy wraz z brakiem hormonu luteinizującego | Rodzinna hipoplazja nadnerczy wraz brakiem przysadkowego LH · Rodzinna hipoplazja nadnerczy, typ miniaturowy |
| cs | Familiární adrenální hypoplázie s chybějícím hypofyzárním luteinizačním hormonem | Familiární adrenální hypoplázie, miniaturní typ · Familiární adrenální hypoplázie s chybějícím hypofyzárním LH |
| uk | Сімейна гіпоплазія надниркових залоз з відсутністю лютеїнізуючого гормону гіпофіза | Сімейна гіпоплазія надниркових залоз з відсутністю гіпофізарного ЛГ · Сімейна гіпоплазія надниркових залоз, мініатюрний тип |
| zh | 家族性肾上腺发育不全伴垂体促黄体生成素缺乏 | 家族性肾上腺发育不全伴垂体LH缺乏 |
| tr | Hipofiz luteinize edici hormon eksikliği ile birlikte ailesel adrenal hipoplazi | Ailesel adrenal hipoplazi, minyatür tip · Hipofiz LH'si yokluğu ile seyreden ailesel adrenal hipoplazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 202150 | E | validated | |
| ICD-10 | E27.1 | NTBT | attributed | validated |
| ICD-11 | 5A74.Y | NTBT | index | validated |
| MONDO | 0008731 | E | validated | |
| UMLS | C5190711 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:595337Adrenal hypoplasia congenita
rare genetic diseases; rare endocrine diseases - ORPHA:181390Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 2906226[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2906226[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/95700
- This record as JSON: /data/d/95700.json