TESTICULAR FEMINISING SYNDROME
Journal Title: Journal of Evolution of Medical and Dental Sciences - Year 2014, Vol 3, Issue 13
Abstract
Testicular feminization syndrome is a form of pseudohermaphroditism where phenotypic female has male gonads and is genotypically male. Androgen insensitivity syndrome (AIS), also known as testicular feminization, encompasses a wide range of phenotypes that are caused by numerous different mutations in the androgen receptor gene. AIS is an X-linked recessive disorder that is classified as complete, partial based on the phenotypic presentation. The clinical findings include a female type of external genitalia, 46-XY karyotype, absence of Mullerian structures, presence of Wolffian structures to various degrees, and normal to high testosterone and gonadotropin levels. The syndrome is illustrated by a 24-year-old phenotypic female who presented with a primary amenorrhea, female-type external genitalia, an absent uterus and ovaries, and bilateral testes at the level of the internal inguinal ring. Management includes counseling, gonadectomy to prevent primary malignancy in undescended gonad, and hormone replacement. The karyotyping of family members is advocated because of known familial tendencies.
Authors and Affiliations
Vijay Kumar, Prema Pradhudev, Kalyani C
Keywords
Related Articles
- EP ID EP95589
- DOI 10.14260/jemds/2014/2285
- Views 91
- Downloads 0
FINE NEEDLE ASPIRATION CYTOLOGY IN LYMPH NODES WITH SPECIAL REFERENCE TO TUBERCULOUS LYMPHADENOPATHY
BACKGROUND FNAC provides an alternative to excision biopsy for lymph nodes and is an easy procedure for collection of material for cytomorphological and bacteriological examination. Aims and Objectives- To analyse the ut...
A STUDY OF CLINICAL, AETIOLOGICAL PROFILE AND OUTCOME IN ISCHAEMIC POSTERIOR CIRCULATORY STROKE
BACKGROUND The posterior circulation strokes account for 10 to 15% of all strokes. The posterior circulation ischaemia ranges from fluctuating brainstem symptoms caused by intermittent insufficiency (so called VBI) to ma...
EMBRYONAL TUMOUR WITH MULTI-LAYERED ROSETTE- A RARE CASE REPORT
PRESENTATION OF CASE An eleven-year-old female child presented with complaints of head ache and vomiting for 1 month. Routine blood examination was within normal limits. MRI shows a heterogenous enhancing lesion of mixed...
UNILATERAL OPEN LIP SCHIZENCEPHALY ASSOCIATED WITH PARTIAL AGENESIS OF CORPUS CALLOSUM.
Schizencephaly is a rare developmental disorder of congenital cerebral malformation. We bring to your attention the case study of a 5 year old female child reported with focal seizures and right hemiparesis sin...
OBSTRUCTIVE SLEEP APNEA- A REVIEW
Obstructive sleep apnea can be characterised as repeated partial or complete airway collapse during sleep. It is a medical condition with increasing frequency, which may be associated with marked increase in morbidity. I...