46,xy sex reversal 11

Preferred Label : 46,xy sex reversal 11;

Symbol : SRXY11;

CISMeF acronym : TRS; SRXY11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TRS; Testicular regression, embryonic; Anorchia, familial; Testicular regression syndrome; Xy gonadal agenesis/dysgenesis syndrome;

Description : The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984).;

Inheritance : Autosomal dominant (sex limited);

Molecular basis : Caused by mutation in the DEAH-box helicase 37 gene (DHX37, 617362.0006);

Laboratory abnormalities : Elevated luteinizing hormone (LH); Elevated follicle-stimulating hormone (FSH); Low anti-Mullerian hormone (AMH); Low or low-normal testosterone;

Prefixed ID : #273250;

Détails

Origin ID

273250;

UMLS CUI

C0266427;

Automatic exact mappings (from CISMeF team)
- F2R wt Allele [NCIt concept]
- Repetition Time [NCIt concept]
- TERC wt Allele [NCIt concept]
- Transferrin Receptor Protein 1 [NCIt concept]
- Treatment required for (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Turkey [NCIt concept]
- Vanishing testis [HPO term]
- gonadal dysgenesis [MeSH Descriptor]
- threonine-tRNA ligase activity [GO term]
- transplantation [MeSH Descriptor]
Currated CISMeF NLP mapping
- Embryonic testicular regression syndrome [ICD-11 More detail]
- Testicular regression syndrome [ORDO Disease]
- Testicular regression syndrome (disorder) [SNOMED CT concept]
- anorchia [MeSH Supplementary Concept]
- testicular regression syndrome [MeSH concept]
- testicular regression syndrome [SNOMED Notion]
False automatic mappings
- Traumeel S [NCIt concept]
Genes related to phenotype
- Deah-box helicase 37 [OMIM gene]
HPO term(s)
- Abnormal internal genitalia [HPO term]
- Absence of pubertal development [HPO term]
- Aplasia of the uterus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased antimullerian hormone level [HPO term]
- Decreased serum testosterone concentration [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Gonadal dysgenesis with female appearance, male [HPO term]
- Primary amenorrhea [HPO term]
- Urogenital sinus anomaly [HPO term]
- Vanishing testis [HPO term]
ORDO concept(s)
- Testicular regression syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Embryonic testicular regression syndrome [ICD-11 More detail]
- Testicular Regression [NCIt concept]
- Testicular regression syndrome (disorder) [SNOMED CT concept]
- Vanishing testis [HPO term]
- testicular regression syndrome [SNOMED Notion]
- testicular regression syndrome [MeSH concept]

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