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
Fine needle aspiration cytology as a diagnostic tool for assessment of cervicallymphadenopathy in a hospital-based study in garhwal region
Aim: The study is aimed for analysis of various cytomorphological patterns of lymphadenopathy and the diagnostic utility of FNAC in our setup.Materials and Methods: The retrospective study included 823 cases of cervical...
An analysis of donor blood wastage in a blood bank at a tertiary care centre -A five-year study
Objectives: The study analyses rate and reasons for wastage of blood and blood products and trends for reducing blood component wastage.Method: A retrospective study was conducted on the data retrieved from blood banking...
Histomorphological patterns of neoplastic and non neoplastic lesions of ovary in hospital based population
Background: The ovaries constitute the internal reproductive organs and are the commonest site of neoplastic and non-neoplastic lesion, can present in childhood to postmenopausal age group and accounts for the most preva...
Study of endometrial histopathology inabnormal uterine bleeding
Background: Abnormal uterine bleeding is a very common gynaecological condition which can affect a women’s physical, mental and social life.The aim of the study was to evaluate the histopathological patterns of endometri...
Histopathological study of lesions of nose, paranasal sinuses and nasopharynx at tertiary care centre
Background: A variety of non-neoplastic and neoplastic conditions involving the nasal cavity, paranasal sinuses (PNS), and nasopharynx are commonly encountered in clinical practice. Due to anatomical proximity of these d...