© Springer India 2016 291
A. Bhansali et al., Clinical Rounds in Endocrinology,
DOI 10.1007/978-81-322-2815-8_9
9
Disorders of Sex Development
9.1 Case Vignette
A 20-year-old individual presented with poor development of secondary sexual
characteristics and primary amenorrhea. She was born of a non-consanguineous
marriage at term by vaginal delivery at home without any perinatal complications
and was assigned female gender. There was no history of maternal virilization or
any drug intake by the mother during pregnancy. The child did not have history of
salt crisis or failure to thrive. The index patient identifi ed self as a female, used to
play with girls, and had preference for girl’s toys. The developmental milestones
and growth were normal and the child had an average scholastic performance.
During adolescence, patient had development of axillary and pubic hair and mild
phallic enlargement. In addition, patient could also feel the presence of some globu-
lar structure in both labioscrotal folds. Patient continued to identify self as a female
and had a preference for male partner. She had eight siblings and one elder sibling
also had genital ambiguity and was reared as a male. There was no family history of
primary infertility, gynecomastia, salt crisis, precocious puberty, and neonatal
deaths. The patient did not receive any medical treatment or surgical intervention till
presentation. On examination, she had height of 161 cm (upper segment 77 cm,
lower segment 84 cm, and arm span 167 cm), weight 55 Kg, and blood pressure
100/60 mmHg. Tanner staging was A + , P 4 , B 2. External genitalia revealed phallus of
4.5 cm with presence of chordee and ventral–urethral groove. There were two