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;
Origin ID : 273250;
UMLS CUI : C0266427;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)