X-linked central congenital hypothyroidism with late-onset testicular enlargement
Synonyms: IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked central congenital hypothyroidism with late-onset testicular enlargement is a rare, genetic, endocrine disease characterized by central hypothyroidism, testis enlargement in adolescence resulting in adult macroorchidism, delayed pubertal testosterone rise with a subsequent delayed pubertal growth spurt, small thyroid gland, and variable prolactin and growth hormone deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked central congenital hypothyroidism with late-onset testicular enlargement | IGSF1 deficiency syndrome · X-linked central congenital hypothyroidism with late-onset macroorchidism |
| fr | Hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X | Syndrome par déficit en IGSF1 |
| de | X-chromosomale kongenitale zentrale Hypothyreose mit spät-beginnender testikulärer Vergrößerung | IGSF1-Mangelsyndrom · X-chromosomale kongenitale zentrale Hypothyreose mit spät beginnender Makroorchidie |
| es | Hipotiroidismo congénito central ligado al cromosoma X con agrandamiento testicular de inicio tardío | Hipotiroidismo congénito central ligado al cromosoma X con macroorquidismo de inicio tardío · Síndrome de deficiencia de IGSF1 |
| it | Ipotiroidismo congenito centrale legato all'X con ingrandimento testicolare ad esordio tardivo | Ipotiroidismo congenito centrale con macroorchidismo a esordio tardivo, legato all'X · Sindrome da deficit di IGSF1 |
| nl | X-gebonden centrale congenitale hypothyreoïdie met laat optredende testesvergroting | IGSF1-deficiëntiesyndroom · X-gebonden centrale congenitale hypothyreoïdie met laat optredend macro-orchidisme · X-gebonden centrale congenitale hypothyreoïdie met laat optredende macro-orchidie |
| pt | Hipotiroidismo central congénito com aumento testicular de início tardio ligado ao X | |
| pl | Ośrodkowa wrodzona niedoczynność tarczycy sprzężona z chromosomem X z powiększeniem jąder o późnym początku | Ośrodkowa wrodzona niedoczynność tarczycy sprzężona z chromosomem X z makroorchidyzmem o późnym początku · Zespół niedoboru IGSF1 |
| cs | X-vázaná centrální vrozená hypotyreóza s testikulárním zvětšením s pozdním začátkem | Syndrom IGSF1 deficitu · X-vázaná centrální vrozená hypotyreóza s makroorchidismem s pozdním začátkem |
| uk | Х-зчеплений центральний вроджений гіпотиреоз із пізнім збільшенням яєчок | Синдром дефіциту IGSF1 · Х-зчеплений центральний вроджений гіпотиреоз з пізнім макроорхізмом |
| zh | X连锁中枢性先天性甲减和迟发性睾丸肥大 | X连锁中枢性先天性甲减和迟发性巨睾丸 |
| tr | X'e bağlı merkezi doğumsal hipotiroidi ile seyreden geç başlangıçlı testis büyümesi | IGSF1 eksikliği sendromu · X'e bağlı merkezi doğumsal hipotiroidi ve geç başlangıçlı makroorşidi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300888 | E | validated | |
| ICD-10 | E03.1 | NTBT | attributed | validated |
| ICD-11 | 5A61.41 | NTBT | attributed | validated |
| MONDO | 0010475 | E | validated | |
| UMLS | C4749943 | 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:226298Central congenital hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGSF1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5948 | ENSG00000147255 | 300137 | Xq26.1 | immunoglobulin superfamily member 1 | 23143598[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 27 cases | Worldwide | Case(s) | Validated | 23143598[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329235
- This record as JSON: /data/d/329235.json