Ovotesticular disorder of sex development presenting in adolescence with amenorrhea and clitoromegaly-what is your diagnosis?

Ovotesticular disorder of sex development presenting in adolescence with amenorrhea and clitoromegalywhat is your diagnosis?An adolescent girl, aged 12 years presented to the gynecology out-patient department, with concerns of absent breast development and lack of menstruation.Her parents reported a gradual deepening of the voice and progressive enlargement of the clitoris over the past two years.There was no history of cyclic abdominal pain, galactorrhoea, visual disturbances, or chronic illness.There was no history of exogenous androgen exposure or anabolic steroid use.The patient's medical history was unremarkable.There was no history of neonatal ambiguity, salt-wasting crises, or similar conditions in family members.On general examination, the patient appeared tall and thin with an arm span exceeding height.She had poorly developed breasts (Tanner stage I) and minimal axillary and pubic hair (Tanner stage I) (Figure 1).No facial acne or hirsutism was noted.The external genitalia were of female phenotype.On local examination, the vaginal opening was not appreciable, and the uterus was not palpable, clinically.The urinary meatus was normal in position.The clitoris measured 2.5 cm in length and 1.3 cm in width, consistent with clitoromegaly (Figure 2).No dysmorphic features such as webbed neck, shield chest, or low hairline were evident.Systemic examination was otherwise normal.Baseline investigations, including complete blood count, liver, renal, and thyroid function tests, were within normal limits.Endocrine evaluation revealed elevated total serum testosterone of 468 ng/dL (normal: 15-70 ng/dL), low estradiol of 10 pg/mL (normal: 30-400 pg/mL), and reduced anti-Mllerian hormone of 0.60 ng/mL (normal: 1.0-10 ng/mL), suggesting impaired ovarian function and androgen excess.Gonadotropins were elevated, with luteinizing hormone (LH) 13.87 IU/L (normal: 1.9-12.5IU/L) and follicle-stimulating hormone (FSH) 37.57 IU/L (normal: 2.5-10.2IU/L), consistent with hypergonadotropic hypogonadism.Dehydroepiandrosterone (DHEA) was within normal limits at 5.60 g/dL (normal: 1.7-7.0g/dL), and 17-hydroxyprogesterone (17-OHP) was low at 0.10 ng/mL (normal: 0.2-1.0ng/mL), effectively excluding congenital adrenal hyperplasia (CAH).Peripheral blood karyotype demonstrated a 46,XY chromosomal pattern, supporting the diagnosis of ovo-testicular disorder with gonadal dysgenesis.Pelvic ultrasonography showed a small uterus with poorly visualized gonads.Magnetic resonance imaging (MRI) of the pelvis demonstrated a left ovary measuring 1.91.1 cm along with a uterine remnant, while the right ovary was not visualized.Two testicular structures were identified, with the right located in the peri vesical region measuring 1.01.2cm and the left in the inguinal canal measuring 0.51.6 cm (Figure 3).Clitoromegaly with underlying cavernous tissue was noted, whereas the remainder of the pelvic organs appeared normal.