Variable Individual 1 Individual 2 Individual 3
Ancestry Latino Senegalese Hungarian
Karyotype 46,XX SRY-negative 46,XX SRY-negative 46,XX SRY-negative
Birth weight (kg) 2.6 2.05 N/A
Cardiac hypoplastic L heart at birth; severely dilated R ventricle with moderate RVH and mild to moderately depressed RV systolic function persistent ostium secundum and ASD VSD at birth; spontaneous closure of VSD at 9 years of age
External genitalia male, hyperpigmented; phallus 3 cm with no hypospadias; gonads not palpable “ambiguous” with phallus-like clitoris, pigmented scrotum; gonads not palpable “ambiguous” Prader IV, pigmented scrotum, phallus-like clitoris; R, palpable gonad in the inguinal canal
Internal genitalia uterus not identified by US uterus present R, ductus-like Wolffian structures; L, uterus, ovary, and Fallopian tube; vagina and short urogenital sinus
Gonads not observed by US not observed by US or MRI pelvic ultrasound: R testis, L ovary; histology: R gonad, testis tubules, and ovarian tissue with oocytes
Other somatic anomalies left congenital diaphragmatic hernia BPES mild learning disabilities, minor limb anomalies, hypertelorism, BPES
Endocrine data (reference values) Day 1: T, 135 ng/dL (20–64); 17-OHP, 120 ng/dL (11–170); LH, 5.1 IU/L (0.02–7.0); FSH, 1.1 IU/L (0.16–4.1) Day 11: T, 579 ng/dL (<130); AMH, 44 ng/mL (<4.2); Inhibin B, 263 pg/mL (<110); FSH, 13.2 IU/L (<10); LH, 9.3 IU/L (0.9–3); 17-OHP, 127 ng/dL (<270)Day 15: T, 327 ng/dL (<40); AMH, 43.1 ng/mL (<4.2); Inhibin B, 217 pg/mL (<110); FSH, 6.9 IU/L (<10); LH, 5.1 IU/L (0.9–3); estradiol <5 pg/mL1 month: T, 304 ng/dL (<40); AMH, 43.1 ng/mL (<4.2); Inhibin B, 230 pg/mL (<110); FSH, 9 IU/L (<10); LH, 15.5 IU/L (0.9–3); estradiol, <5 pg/mL Day 17: T, 250 ng/dL (<40); 17-OHP, 185 ng/dL (40–490)Day 30: T, 460 ng/dL (<40)Day 45: T, 50 ng/dL (<40)Day 73: T, 110 ng/dL (<40)
Mutation de novo, c.103_109delGGCGCCC (p.Gly35Argfs∗75) de novo, c.97_103delCCGCCCG (p.Pro33Alafs∗77) N/A, c.97_103delCCGCCCG (p.Pro33Alafs∗77)