Phenotypic diversity in siblings with partial androgen insensitivity syndrome

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Phenotypic 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...

متن کامل

Three Siblings with Androgen Insensitivity Syndrome.

Genetic, gonadal, phenotypic and psychological genderis the basis for gender assignment to an individual. Derangement in genetic makeup, under or over exposure to sex hormones and problems related to sex hormone receptors will lead to abnormal development of the external and internal genitalia. Failure to respond for the endogenous androgen, Androgen Insensitivity Syndrome is one of the common ...

متن کامل

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 کامل

Partial 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 کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1997

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.76.6.529