FAMILIAL TESTICULAR FEMINISATION SYNDROME. Brothers grown up as beautifulsisters.XY Females in a family

Abstract

FAMILIAL TESTICULAR FEMINISATION
SYNDROME(BROTHERS
GROWN UP ASBEAUTIFUL SISTERS).
XY FEMALES IN A FAMILY. ABSTRACT
TFS is a rare form of malePseudohermaphroditism
with an incidence
of 1 in 20,000 to 64,000. Individuals with
complete formhave female genitalia and
incomplete form have ambiguous genitalia
which makes the diagnosiseasy.
CASE SUMMARYA 21 year girl attended
OPD with complaints of not attained
menarche. Onexamination she was phenotypically
female with sparse pubic and
axillary hair. Her younger sisterwho was
18 years old also had similar complaints.
On evaluation both of them had high testosterone,
absent uterus with BL gonads.
Karyotyping was done, found to be XY.
They were proceeded withGonadectomy
with HRT. The HPE showed presence of
testicular tissue. Familial TesticularFeminisation
syndrome is a rare entity and
only few cases are reported till now