منابع مشابه
Laparoscopic 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 کامل46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.
The objective of this study was to describe the change in diagnosis and prognosis of a child with testicular dysgenesis and 46,XY karyotype after detection of a 45,X cell line and to discuss the difficulties caused by the terms mixed gonadal dysgenesis (MGD) and XY partial gonadal dysgenesis (XYPGD). One case was reported including clinical and laboratory findings of a child of 41-day-old infan...
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 کامل[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis].
Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high l...
متن کامل46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'.
Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital. At birth, the perceived female external g...
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ژورنال
عنوان ژورنال: Electronic Journal of General Medicine
سال: 2012
ISSN: 2516-3507
DOI: 10.29333/ejgm/82451