Rare case of two siblings with complete androgen insensitivity syndrome
نویسندگان
چکیده
Androgen insensitivity syndrome (AIS) also called testicular feminizing is a rare X linked disorder of sexual differentiation caused by mutation in the androgen receptor (AR) gene, which located on chromosome (Xq11-q12). In reported cases, individuals with complete (CAIS) presented female appearance and normal breast development, absence uterus ovaries, bilateral undescended testis, elevated testosterone levels. The usually detected evaluation phenotypic primary amenorrhea who presents for treatment infertility. Here, we report 2 cases CAIS siblings 21 19 years age to us amenorrhea. elder sibling amenorrhea, thelarche +, absent adrenarche, blind pouch vagina, b/l inguinal masses suggestive testes, raised serum USG. While younger similar findings but had history orchidectomy at 14 years. Both sisters were admitted our unit sister underwent McIndoe’s vaginoplasty. vaginoplasty same day. Post-operative recovery was uneventful they given hormone replacement therapy (HRT). AIS disease AR gene. when diagnosed early can be treated appropriately. Precise diagnosis requires clinical, hormonal molecular investigation great importance appropriate gender assignment management general. With timely gonadectomy, or vaginal deepening, psychological support help person live healthy almost life.
منابع مشابه
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 کاملComplete Androgen Insensitivity Syndrome.
The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genita...
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: International journal of reproduction, contraception, obstetrics and gynecology
سال: 2021
ISSN: ['2320-1770', '2320-1789']
DOI: https://doi.org/10.18203/2320-1770.ijrcog20214668