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 142
- Downloads 0
Needle in time saves many in breast carcinoma
Background: Breast carcinoma is the most common cancer in females in the world with high rate of morbidity and mortality. Various parameters play a role in prognosis, like grading, staging, hormone receptor status. One o...
Seroprevalence and trends of anti- Hepatitis C antibodies among voluntary blood donors in a tertiary care hospital blood bank in South India
Background: The transfusion of blood and its components is life saving but each transfusion has its own risks of adverse effects including the transmission of Transfusion Transmissible Infections (TTI). The aim of this s...
An interesting study on Hidradenitis suppurativa
Background: Hidradenitis suppurativa is a debilitating, chronic, relapsing inflammatory condition associated with the development of painful nodules and abscesses progressing to persistingly draining sinus tract. This co...
Spectrum of diseases presenting with cervical lymphadenopathy: Fine needle aspiration cytology
Background: The cervical lymphadenopathy consists of a wide range of etiology, ranging from inflammatory process to a malignant condition and it is a more common clinical presentation in the outpatient department. Fine n...
HPLC in the diagnosis of Haemoglobinopathies and Thalassaemias
Abstract Problem statement: It is important to identify carriers of haemoglobin disorders in order to assess the risk of a couple having a severely affected child and to provide information on the options available to av...