منابع مشابه
46, XY female--a case report.
INTRODUCTION We examine a presumptive case of complete androgen insensitivity syndrome (CAIS) with certain unusual features. CLINICAL PICTURE A woman with early onset osteoporosis gave a history of primary amenorrhoea and surgery for intraabdominal gonads. She subsequently defaulted follow-up and hormone replacement therapy. Endocrinological evaluation revealed hypergonadotrophic hypogonadism...
متن کاملCASE REPORT 46,XY Hypergonadotropic hypogonadism and myasthenia gravis
Both hypergonadotropic hypogonadism and myasthenia gravis can be parts of type II autoimmune polyendocrine syndrome and association between the two disorders has been reported in few cases. A 14 year old male patient with a personal history of bilateral cryptorchidism and ptosis was referred for delayed puberty. Clinical examination revealed eunuchoid habitus, small, soft testes, gynecomastia, ...
متن کامل46,XX Male Disorder of Sexual Development: A Case Report
The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 4...
متن کاملPrenatal diagnosis and normal outcome of a 46,XX/46,XY chimera: a case report.
The phenotypic spectrum of 46,XX/46,XY chimeric patients is variable. It ranges from normal male or female genitalia to different degrees of ambiguous genitalia. Chimerism results from the amalgamation of two different zygotes in a single embryo, whereas mosaicism results from a mitotic error in a single zygote. Several other mechanisms resulting in a chimera have been discussed in the literatu...
متن کاملDysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report
Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea d...
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ژورنال
عنوان ژورنال: Skeletal Radiology
سال: 1978
ISSN: 0364-2348,1432-2161
DOI: 10.1007/bf00347318