Disorders of Sex Development
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 identified 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 globular 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+, P4, B2. External genitalia revealed phallus of 4.5 cm with presence of chordee and ventral–urethral groove. There were two distinct openings with presence of posterior labial fusion. Both the gonads were palpable in the inguinal region (measuring 10 ml and 8 ml on the left and right side, respectively) which could be brought down to labioscrotal folds. Labioscrotal folds were partially rugosed and pigmented. The external masculinization score was 2. The patient did not have temporal recession, facial hair, acne, male torso, body hairs, and deepening of voice. Systemic examination was unremarkable. On investigations, hormonal profile showed LH 32.5 mIU/ml (N 1.7–8.6), FSH 48.5 mIU/ml (N 1.5–12.4), T 6.4 nmol/L (N 9.9– 27.8), DHT 281 pg/ml (N 240–650), E2 39.7 pg/ml (N 7.63–42.6), 0800 h cortisol 371.5 nmol/L (N 171–536), prolactin 11.4 ng/ml (N 4–15), T4 8.7 μg/dl (N 4.8–12.7), and TSH 1.53 μIU/ml (N 0.27–4.2). Ultrasound and MRI abdomen confirmed the absence of Mullerian structure and showed the presence of homogeneous solid structure in both inguinal canal with right one measuring 3.2 × 2.7 × 1 cm and left measuring 3.8 × 2.2 × 1 cm. Karyotype from mononuclear cell was 46,XY. Patient underwent hCG stimulation test and the results are summarized in the table given below.
KeywordsGonadal Dysgenesis Complete Androgen Insensitivity Syndrome Persistent Mullerian Duct Syndrome Genital Ambiguity Mixed Gonadal Dysgenesis
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