Table 1.
Clinical and biochemical characteristics of the studied patients.
| Case (Gender) | Phenotype | Hormonal Findings | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Genital Anatomy, Histology and Presence of Müllerian Ducts | Age | 17OHP | DHEA-S | Androst | T | DHT | FSH | LH | AMH | Others | |
| 1 (m) | At birth: curved micropenis, hypospadias, cryptorchidism. Surgery. At 12 y: penis 7.6 cm. MRI: testis 5 mL, small cysts. At 15 y: MRI: right testis (3.2 mL) and left testis (3.3 mL), small cysts. Absence of Müllerian ducts. | 10 y | 1.7/1.9 † | 86.3/187.4 † | 0.19/0.15 † | 11.9 | 0.9 | ||||
| 11 y | 1.3 | 2.5 | 290.5 | 0.5 | 30.4 | 7.1 | |||||
| 14 y | 1900 | 412.5 | 35.9 | 11.4 | <0.1 | ||||||
| 15 y | 2010 | 4.1 | 518 | 0.5 | 38.9 | 14.6 | 0.4 | ||||
| 2 (f) | At 10 y: bilateral inguinal hernia and gonads, clitoromegaly. US: vaginal pouch, no uterus. Histology: hypoplastic testis. Gonadectomy. At 20 y: good breast development after estrogen treatment. At 25 y: US: prepuberal hypoplastic uterus. No ovaries. Müllerian ducts. | 10 y | 1.9 | 1.0 | 250 | 24 | 95 | E2: 16 | |||
| 27 y | 0.5 | 2.5 | 21.4 | 8.4 | E2: 26.4 | ||||||
| 3 (m) | At birth: micropenis, hypospadias, undescended testes. 5 y: normal penis, right testis 2 mL and hydrocele left testis. At 6 y: smaller penis, scrotal testes. Absence of Müllerian ducts. | 2 d | 202 | 23.6 | 1.5 | <0.5 | <0.5 | F: 10.4 | |||
| 1 m | 400 | 67.5 | 3.7 | 2.5 | F: 6.1 | ||||||
| 4 (f) | At 14 y: primary amenorrhea, virilization. clitoromegaly, scrotal rests. US: rudimentary uterus, atrophic testis in left inguinal canal. At 15 y: gonadectomy. Histology: testis with Sertoli cells and epididymis. Müllerian ducts: rudimentary uterus. | 14 y | 0.9 | 1.61 | 1.7 | 193 | 0.5 | 112.5 | 37.8 | 0.4 | E2: 16.7 |
| 5 (f) | At 14 y: primary amenorrhea, stenotic and enlarged vagina. At 15 y: laparoscopy: rudimentary uterus, streak gonads. Gonadectomy. Histology: testicular parenchyma, normal fallopian tubes. Müllerian ducts: vagina, rudimentary uterus. | 14 y | 0.5 | 1960 | 2.0 | 36.6/46 † | 44.3 | 12.2 | <0.01 | F: 18/27 †; E2: 31.0 | |
| 6 (m) | At birth: micropenis, hypospadias, palpable gonads. At 2 y: biopsy. Histology: testicular tissue. 17 y: absence of germ cells and Leydig cells hypoplasia. At 10 y: penis 2.6 cm. At 14 y: penis 5.5 cm, scrotal testes. At 17 y: biopsy. At 38 y: penis 3–4 cm, testes 2 cc. Absence of Müllerian ducts. | 10 y | 20/130 † | ||||||||
| 14 y | N | 180/350 † | 55 | 15 | ACTH: N; F: N | ||||||
| 15 y | 140/500 † | 39/72 † | 11/137 † | ||||||||
| 38 y | 0.3 | 1293 | 1.4 | 500 | 25 | 15.6 | <0.1 | ACTH: 36; F: 14.3; E2: 20 | |||
| 7 (f) | At 1 y: hypertrophic clitoris, fused labia minora. MRI: vagina (3.2 cm) without annexes. Genitoplasty. At 3 y: US: absence of ovaries and uterus. Absence of Müllerian ducts. | 1 y | 0.4 | <17 | 0.6 | 8 | 1.2 | 0.5 | 40.3 | F: 12.1; E2: <10 | |
| 7 y | 14 | 3.8 | 0.05 | E2: <11 | |||||||
17OHP, 17-hydroxyprogesterone (ng/mL); ACTH, adrenocorticotropic hormone (pg/mL); AMH, anti-Müllerian hormone (ng/mL); Androst, androstenedione (ng/mL); F, cortisol (ug/dL); DHEA-s, dehydroepiandrosterone sulphate (ng/mL); DHT, dihydrotestosterone (ng/mL); E2, estradiol (pg/mL); f, female; FSH, follicle-stimulating hormone (U/L); LH, luteinizing hormone (U/L); m, male; MRI, magnetic resonance imaging; N, normal; T, testosterone (ng/dL); US, ultrasound; y, years. † After human chorionic gonadotropin (hCG) stimulation test. All patients presented with a 46,XY karyotype. Laboratory test values outside the normal range of age and chromosomal sex are given in bold.