Gonadal Tissue Cryopreservation for a Girl With Partial Androgen Insensitivity Syndrome
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چکیده
منابع مشابه
Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important. Androgen insensitivity syndrome (AIS) is a rare endocrine disorder presenting with gynecomastia and is a disorder of male sexual differentiation...
متن کاملPartial Androgen Insensitivity Syndrome: A rare disease
Androgen insensitivity syndrome is a rare disease, manifested as normal female external phenotype to infertile male with 46 XY karyotype due to different level of resistance of androgen receptor. Androgen insensitivy syndrome is classified as complete, partial and mild androgen insensitivity. Partial androgen insensitivity syndrome is further subclassified according to morphogenesis as predomin...
متن کاملAssessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome.
OBJECTIVE To study the value of measuring serum luteinising hormone (LH), follicle stimulating hormone (FSH), testosterone, and dihydrotestosterone (DHT) in androgen insensitivity syndrome (AIS). DESIGN Retrospective study of patients on a nationwide register of AIS. PATIENTS Sixty one cases of AIS with androgen receptor (AR) dysfunction (abnormalities of the AR gene and/or abnormal AR bind...
متن کاملPhenotypic diversity in siblings with partial androgen insensitivity syndrome.
The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point m...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2019
ISSN: 2472-1972
DOI: 10.1210/js.2019-00023