ESPE Abstracts

Amenorrhea constitutes one of the primary reasons for consultation in reproductive medicine. Amenorrhea in adolescents can be either primary or secondary.

Clinical Observation: She is a 16-year-old girl, born of a second-degree consanguineous marriage, the eldest of 2living siblings, She presents with primary amenorrhea. A aunt, aged 40, also presents with the same unexplored issue. The illness history dates back a year following primary amenorrhea, prompting the parents to consult a private physician who requested a pelvic MRI, revealing ectopic testicles at the openings of inguinal canals, hypotrophic and homogeneous.

Clinical Examination: Weight: 56 kg on M, Height:164cm (M, +1SD) Sempé&Pédron growth charts. BMI:20 kg/m² (M, -1SD) WHO growth charts. BP: 110/51mmHg, HR:75bpm, No craniofacial dysmorphia. Tanner stage S2P4. External genitalia appear unambiguously female, with both vaginal and urethral orifices present. Labia majora, labia minora, and clitoris are normal. Palpation reveals 2sensitive inguinal masses corresponding to testicles. Presence of a1cm breast bud. Quigly score: 6, External masculinization score: 5. No hirsutism or acne. Normal neurological examination.

Exploration: Karyotype: Chromosomal formula 46 XY. Genitocystography: Presence of a posterior cavity measuring 21mm, with a short and bent uterus. Normal renal and hepatic function, No anemia. FSH: 41.44 (1.5-11.8 iu/l), LH: 26.4(1.1-25iu/l). AMH:62.5 ng/ml (pre-pubertal boy: 146.6ng/ml). Testosterone:0.086 ng/ml (10-20 y:0.5-5ng/ml). DHT:0.08 ng/ml (0.33-1.2ng/ml). Testosterone/DHT ratio: 1.07 (<10). Delta4androstenedione: 1.58ng/ml, boys (16-17y: 0.3-1.13ng/ml). HCG test: Short 5-day test: no response in testosterone and delta4.

Discussion: In light of this 46 XY DSD, we have ruled out:

• Gonadal dysgenesis: Female external genitalia but no Müllerian derivatives seen on ultrasound and abdominopelvic MRI, and the cavity visualized on cystography likely results from the non-virilization of the prostatic utricle rather than a uterus, hence an exploratory laparoscopy would have been helpful. Normal AMH.

• Androgen action anomalies due to androgen insensitivity or 5-alpha reductase deficiency: Testosterone and DHT levels severely diminished

• Testosterone synthesis anomalies due to 17 B hydroxysteroid dehydrogenase deficiency: No virilization at puberty, non-elevated delta 4 levels that do not increase after HCG test.

• DHH (desert hedgehog) mutation is unlikely, as the neurological examination is normal (no signs of polyneuropathy).

Leydig cell agenesis secondary to LH receptor mutation remains the most probable diagnosis due to:

- Female appearance of external genitalia.

- Absence of virilization at puberty

- Elevated levels of gonadotropins.

- Severely diminished testosterone levels before and after the HCG test.

The management was multidisciplinary:

The patient is being kept as female.

She underwent gonadectomy with histopathological study and hormonal treatment.