Androgen insensitivity syndrome: Report of 4 cases
Journal Title: Medpulse International Journal of Pathology - Year 2017, Vol 3, Issue 2
Abstract
Androgen insensitivity syndrome (AIS), formerly known as testicular feminization syndrome, is an X-linked recessive condition resulting in a failure of normal masculinization of the external genitalia in chromosomally male individuals. The disease is the result of an end-organ resistance to androgens caused by an abnormality in androgen receptors, which may be absent or which may display quantitative or qualitative abnormalities. Occasionally, there is a post receptor abnormality. Three different phenotypic presentations of are i) Complete androgen insensitivity syndrome ii) Partial androgen insensitivity syndrome and iii)Mild androgen insensitivity syndrome. In the complete form, there is no androgen response, therefore normal external female genitalia develop and these infants are reared as females. There may be labial or inguinal swellings which contain testis. These patients most often present in late adolescence with primary amenorrhoea. There is absence of uterus and ovaries on ultrasound scan or laparoscopy. Vagina is short, develops from urogenital sinus only and ends blindly. We here present 4 cases of AIS presenting with inguinal or labial swellings.
Authors and Affiliations
Jaydeep N Pol, Arun G Gujar, Vinayak S Joshi, Yogeshri A Chougule, Madhura D Phadke, Yash R Kale
Keywords
Related Articles
- EP ID EP260026
- DOI -
- Views 144
- Downloads 0
Immunohistochemical study of receptor status in breast carcinoma and their correlation with histopathological grading
Background and Objectives: Breast carcinoma is the second most common cancer in many parts of India. The prognosis and management of breast carcinoma is influenced by factors like stage, grade, estrogen receptor (ER), pr...
Evaluation of concordance between the cytological grading and histomorphological grading of breast carcinoma in a series of 100 cases
Background: Breast cancer survival is linked to early detection with timely appropriate treatment. Fine needle aspiration cytology is a reliable method for the initial evaluation and diagnosis of alpable masses of the br...
Assessment of causes related to anaemia with reference to laboratory criteria
Background: Anaemia, though considered trivial, causes a lot of disability to the patients and if not treated correctly can end up with complication like heart failure. The clinical diagnosis and management of anaemia is...
Spectrum of benign breast lesions at BKL Walawalkar rural medical college and hospital - A tertiary care centre in Konkan Maharashtra, India
Non neoplastic and neoplastic lesions of breast form an important group of diseases in women of all ages ranging from late adolescence to post menopausal age group. There was no known published data covering the subject...
Gross and macroscopic features of gallbladder in cholecystectomy specimen
Background: The gallbladder is described as having a fundus, body and neck. The neck lies at the medial end close to the portahepatis, and almost always has a short peritoneal-covered attachment to the liver (mesentery);...