In the course of last few years of dedicated practice in Pediatric Urology and Hypospadiology, We realized that anxious parents have a lot of questions and they forget to ask many of them when they are consulting us in the clinic. Here I have put down some of these question/ answers and I hope it helps the parents in participating better in the care of their little ones.All in all it's a team effort.

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.

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 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. 


In neonatal age/childhood
  • Ambiguous genitalia – on external examination there is a doubt.
  • Hypospadias with undescended testis
  • Severe Hypospadias
  • Micropenis
  • Clitoral hypertrophy/ posterior labial fusion
  • Inguinal hernia in a girl child
Older children & adults
  • Delayed or incomplete puberty
  • Primary amenorrhea
  • Infertility
  • Breast development in a male
  • Cyclical hematuria in a male 


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.

  • 46XY DSD – earlier called Male pseudohermaphrodite, undervirilised male, includes
    • Disorders of testicular development – Complete dysgensis (Swyer syndrome),  Partial dysgenesis, gonadal regression
    • Disorders of Androgen Synthesis or action-
      • Androgen biosynthetic defect (17OH steroid dehydrogenase deficiency pr 5Alpha reductase deficiency)
      • Androgen Receptor defect: Partial or Complete Androgen insensitivity syndrome
      • Leydig cell aplasia
      • Persistent Mullerian duct syndrome
  • 46 XX DSD- earlier called female pseudohermaphrodite, virilised female
    • Disorders of ovarian development
    • Androgen excess
  • Sex chromosome 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 need to be done.

  • Ultrasound
  • 17-OH progesterone
  • Karyotype – is the study of chromosomes, done via blood tests
  • Hormonal assay- Testosterone/ Dihydrotestosterone/ LH/FSH/Estradiol etc
  • Retrograde genitogram
  • MRI pelvis
  • Levels of adrenal metabolites
  • Counseling
  • Sex assignment
  • Sex assignment surgery if required
  • Psychosocial rehabilitation
  • Hormonal replacement

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