Disorders of Sexual Development cases at NIMS and CDFD. City gets 30 cases in 2012

CDFD and NIMS have received 30 cases of Disorders of Sexual
Development (DSD) including tuners syndrome, Klinefelter S yndrome and Sex reversal(phenotypic female with 46, XY) which are diagnosed and the families and patients were counselling in 20011-012.

Udumula Sudhakar Reddy

Inhibitions among the people in approaching thediagnostics labs for testing the disorders of sexual development

including the rare disorders of ‘sex reversal’ has decreased
enormously. The numbers of cases received by Centre for DNA
Fingerprinting and Diagnostics and NIMS medical genetics lab indicate
that the awareness is increasing.

CDFD and NIMS have received 30 cases of Disorders of Sexual
Development (DSD) including tuners syndrome, Klinefelter syndrome and
Sex reversal(phenotypic female with 46, XY) which are diagnosed and
the families and patients were counselling in 20011-012. Though
Turners and Klinefelters are seen common the sex reversal is uncommon.
According to CDFD report a total of 2149 patients were presented for
genetic evaluation and counselling, during the year. These consisted
of patients with chromosomal disorders, monogenic disorders, mental
retardation, congenital malformations, inborn errors of metabolism,
and familial disorders.
NIMS Medical Genetics in-charge and Assistant Professor Dr. Prajnya
Ranganath says ,”Due to increase in awareness the facility is showing
picked up rate. We are not using the words like sex reversal now. We
are using Disorders of Sexual Development for all types of chromosomal
and single gene disorders like Complete Androgen Insensitivity.
Usually males have 46XY and Females 46 XX chromosomes. In some cases
of genetic disorders though the males have 46 XY they may not produce
male hormones sufficiently or male hormone receptor is not effective
due to single gene defect. Due to this the male appears externally
female as the male characteristics don’t grow. Like wise in female to
they exhibit male characteristics,”
She added ,”the other types are chromosomal DSDs. In Klinefelter
syndrome an extra X chromosome is seen in male it is 47 XXY that
causes problems like infertility and and also delayed development of
secondary sexual organs and also lead breast
enlargement(gynaecomastia).  In Turners syndrome female will have one
less X chromosome leading incomplete ovarian development and not
attaining menarche( menstrualcycle,”
Turners syndrome is seen in one in 2000 females and Klinefelters
syndrome are one in 1000 males. “These two are fairly common. But
single gene disorders like 46 XY OSD are less common one in 25,000 to
one in one lakh population,” she added.
The NIMS lab have received cases not only from AP but also from
Maharasthra, Karnataka, Orissa and Tamilandu.
NIMS Director Dr Dharmarakshak said ,”After clinical evaluation the
patients are diagnosed and counselled,”