Gonadal Dysgenesis with an XY Chromosome Pattern
نویسندگان
چکیده
منابع مشابه
Familial XY gonadal dysgenesis.
Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...
متن کاملLaparoscopic Gonadectomy in 46,xy Gonadal Dysgenesis
We reported a case of a 17 year-old female, who presented with primary amenorrhea. She had normal female external genitalia and a 46,XY karyotype. Hormone profiles and laparoscopic findings confirmed a diagnosis of 46,XY gonadal dysgenesis (Swyer syndrome). Prophylactic gonadectomy was performed laparoscopically to prevent the risk of malignant germ cell tumor. Current management of this rare s...
متن کاملMixed Gonadal Dysgenesis with an unusual "inverted" Y chromosome.
Mixed gonadal dysgenesis is a rare disorder of sex development associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. It is characterized by a unilateral non-palpable (usually intra-abdominal) testis, a contralateral streak gonad and persistent mullerian structures. The clinical presentation can vary from a typical male to female phenotype including all degrees of cryptorc...
متن کاملGonadoblastoma in a patient with 46, XY complete gonadal dysgenesis.
46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years. Her history and familial history involved no relevant conditions. She had Tanner stage 1 thelarche, and Tanner stage 2 pubic hair development with no axillary hair development...
متن کاملDicentric Y chromosome in mixed gonadal dysgenesis.
A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in ...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1963
ISSN: 0035-9157
DOI: 10.1177/003591576305600510