Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Synonyms: Al Awadi-Farag-Teebi syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare endocrine disorder characterized by primary hypogonadism and partial alopecia. Females present with Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia, primary amenorrhea, and sparse or absent axillary and pubic hair. Some patients also presented sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis or mild intellectual disability. The only described male presents with germinal cell aplasia. Affected individual all present partial scalp alopecia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hypergonadotropic hypogonadism-partial alopecia syndrome | Al Awadi-Farag-Teebi syndrome |
| fr | Syndrome d'hypogonadisme hypergonadotrope primaire-alopécie partielle | Syndrome d'Al Awadi-Farag-Teebi |
| de | Primärer hypergonadotroper Hypogonadismus-partielle Alopezie-Syndrom | |
| es | Síndrome de hipogonadismo hipergonadotrópico primario-alopecia parcial | Síndrome de Al Awadi-Farag-Teebi |
| it | Ipogonadismo primitivo - alopecia parziale | Sindrome di Al Awadi-Farag-Teebi |
| nl | Primair hypergonadotroop hypogonadisme - partiële alopecie-syndroom | Syndroom van Al Awadi-Farag-Teebi |
| pt | Síndrome de hipogonadismo hipergonadotrópico primário-alopecia parcial | Síndrome Al Awadi-Farag-Teebi |
| pl | Pierwotny hipogonadyzm hipergonadotropowy - łysienie ciemieniowe | Zespół Al Awadi, Farag i Teebi |
| cs | Syndrom zahrnující primární hypergonadotropní hypogonadismus a částečnou alopecii | Al Awadiové-Faragův-Teebiho syndrom · Al Awadi-Farag-Teebiho syndrom |
| uk | Синдром первинного гіпергонадотропного гіпогонадизму - часткової алопеції | Синдром Аль-Аваді-Фараг-Тібі |
| zh | 原发性高促性腺激素性性腺功能减退-局部脱发综合征 | Al Awadi-Farag-Teebi 综合征 |
| tr | Primer hipergonadotropik hipogonadizm-kısmi alopesi sendromu | Al Awadi-Farag-Teebi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241090 | E | validated | |
| ICD-10 | E28.3 | BTNT | attributed | validated |
| ICD-10 | E29.1 | BTNT | attributed | validated |
| ICD-11 | GA30.6 | NTBT | attributed | validated |
| MONDO | 0009420 | E | validated | |
| MeSH | C536949 | E | validated | |
| UMLS | C2931374 | 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 (1):
- ORPHA:181441Rare disorder with hypergonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders
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 | 7 cases | Worldwide | Case(s) | Validated | 19213036[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19213036[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
41 annotations · validated 2016-11-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002293 | Alopecia of scalp | Diagnostic criterion |
| HP:0000815 | Hypergonadotropic hypogonadism | Diagnostic criterion |
| HP:0008193 | Primary gonadal insufficiency | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0008187 | Absence of secondary sex characteristics | |
| HP:0008633 | Agonadism | |
| HP:0001596 | Alopecia | |
| HP:0010463 | Aplasia of the ovary | |
| HP:0008684 | Aplasia/hypoplasia of the uterus | |
| HP:0003187 | Breast hypoplasia | |
| HP:0000028 | Cryptorchidism | |
| HP:0008214 | Decreased serum estradiol | |
| HP:0040171 | Decreased serum testosterone concentration | |
| HP:0000823 | Delayed puberty | |
| HP:0005469 | Flat occiput | |
| HP:0001510 | Growth delay | |
| HP:0000802 | Impotence | |
| HP:0000837 | Increased circulating gonadotropin level | |
| HP:0000789 | Infertility | |
| HP:0003799 | Marked delay in bone age | |
| HP:0011961 | Non-obstructive azoospermia | |
| HP:0000938 | Osteopenia | |
| HP:0000939 | Osteoporosis | |
| HP:0000786 | Primary amenorrhea | |
| HP:0007464 | Sparse facial hair | |
| HP:0010464 | Streak ovary | |
| HP:0000219 | Thin upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0001256 | Intellectual disability, mild | |
| HP:0002808 | Kyphosis | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000252 | Microcephaly | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002225 | Sparse pubic hair | |
| Occasional (29-5%) | ||
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger | |
| HP:0006184 | Decreased palmar creases | |
| HP:0000365 | Hearing impairment | |
| HP:0010487 | Small hypothenar eminence | |
| HP:0012506 | Small pituitary gland | |
| HP:0003393 | Thenar muscle atrophy | |
| HP:0001199 | Triphalangeal thumb | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19213036[PMID]_12749067[PMID]_4061495[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2232
- This record as JSON: /data/d/2232.json