Sex Development or Sexual differentiation is a complex but well orchestrated process which starts at 7-8 weeks of pregnancy in the developing fetus and is practically complete by 12 weeks. Any interference or disturbance in this orderly set of events can results in reproductive organs not being properly formed- called Disorders of Sexual Differentiation (erstwhile known as Intersex). DSD was coined by International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology in 2006. It replaces the earlier term Intersex which was thought to be controversial as there was a lot of social stigma attached with it and it was insensitive towards the families and kids suffering from DSD.
New molecular research, better understanding, long term follow-up data and better surgical techniques have allowed us to offer a more comprehensive approach including counseling, planned surgical correction and appropriate gender assignment in these babies.
How does normal Sex Development occur?
Sex Development occurs under the guidance of chromosomes and genes encoded on them. Chromosomes reside in the nucleus of all of our cells and contain all the information necessary for our body structure & function. Human beings have 46 chromosomes (23 pairs) in all of their cells, 23 of these come from mother and 23 from father. 22 of these pairs are called Autosomes and one pair is called Sex chromosomes.
Female sex chromosome pair is configured anatomically as 46XX while in males as 46XY. The Y chromosome in males carries a region called SRY which guides the germ cells towards differentiation into male sex. First step in males is differentiation of germ cells into into testis while in the absence of Y chromosome in females the germ cells differentiate into ovary.
Testis liberates two hormones starting in week 8 which spearhead the differentiation. First one is called Mullerian Inhibiting substance which causes regression of female sex organs. Second one is called Testosterone which leads to development of male reproductive organs. Testosterone is further broken down into a hormone called Dihydrotestosterone and together with testosterone helps in formation of penis and external sex organs in male. Testosterone & Dihydrotestosterone are collectively called Androgens.
When is DSD suspected?
In neonatal age/ childhood
Older children & adults
What are the types of DSD?
We are following the latest DSD classification formulated by International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology, 2006.
What are the tests for confirming DSD?
After a thorough clinical examination and on the basis of suspected type of DSD, tests are done to confirm and reach a definitive & precise diagnosis. Not all the tests are required in all the cases, your doctor will be the best person to decide which tests to be done.
How are DSD treated?