Clinical spectrum of disorders of sexual differentiation

Objective: To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. Study Design: Observational study. Place and Duration of Study: The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre [JPMC], Karachi, from July 2012 to July 2014

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Methodology: Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data

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Results: A total of 48 patients registered in the study with mean age of 19.9 +/- 8 years. Female gender was assigned to 28 [58.3%] of which 8 [28.57%] had genital ambiguity. Male gender was assigned to 20 [41.66%] patients at the time of birth and 7 [35%] of them had ambiguous genitalia. Karyotyping could be done in 36 [75%] patients of which 17 [47.2%] were females and 19 [52.7%] were males. Karyotypic gender of the 19 [48.57%] male patients was 46 XX, 46 XY and 47 XXY; in 4 [21.05%], 5 [26.3%] and 10 [52.6%] patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 [47.42%] female patients were 46 XX, 46 XY and 45 X0; in 5 [29.4%], 3 [17.64%] and 9 [52.9%] patients, respectively

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Conclusion: Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative