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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 inves-
tigation, hormonal profi le 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), E 2 39.7 pg/
ml (N 7.63–42.6), 0800h cortisol 371.5 nmol/L (N 171–536), prolactin 11.4 ng/ml
(N 4–15), T 4 8.7 μg/dl (N 4.8–12.7), and TSH 1.53 μIU/ml (N 0.27–4.2). Ultrasound
and MRI abdomen confi rmed the absence of Mullerian structure and showed the
presence of homogeneous solid structure in both inguinal canal with right one mea-
suring 3.2 × 2.7 × 1 cm and left measuring 3.8 × 2.2 × 1 cm. Karyotype from mono-
nuclear cell was 46,XY. Patient underwent hCG stimulation test and the results are
summarized in the table given below.
Baseline (nmol/L) Post-hCG stimulated (nmol/L)
Androstenedione (A) 20.6 25.7
Testosterone (T) 6.4 8.8
T/A ratio 0.31 0.34Genitoscopy showed separate urethral opening and a blind vaginal pouch.
A diagnosis of 46,XY DSD due to 17β-hydroxysteroid dehydrogenase type 3 defi -
ciency (androgen biosynthetic defect) was established. Considering her gender
identity and role, she underwent bilateral gonadectomy and phallic recession sur-
gery. Gonadal tissue histology showed presence of Leydig cells and seminiferous
tubules consistent with testes. She was treated with estradiol valerate for the devel-
opment of secondary sexual characteristics at a dose of 0.5 mg once a day and pro-
gressively increased to 2 mg per day (Fig. 9.1 ).
9 Disorders of Sex Development