Figure 2.

Family members: II-3, woman with masculine appearance, no breasts, infertile, moved away from hometown because of unacceptable appearance and died during World War II at age of 62 yr; II-4, woman who died at age 76 yr; II-6, woman who died at age 68 yr; II-7, man who died at age 64 yr; III-5,6, woman with hirsutism who died around age 60 yr; III-9, ambiguous genitalia with hirsutism (beard), raised as female, family was ashamed of her and hid her from public, died at age 55 yr; III-10, man with confused gender identity, infertile, committed suicide at age 24 yr; III-13, normal man who died at age 70 yr; III-14, normal woman; *IV-3, 46,XY fertile man; *IV-4, fertile woman with a predominantly 46,XY ovary (patient 2, mother); *IV-5, 46,XX fertile woman; IV-7, woman with absent uterus and ovaries [established outside of Zagreb, and history was obtained from patient 1 (daughter)], on hormone replacement, died at age 42 yr from multiple sclerosis; *IV-8, normal fertile woman; *IV-9, normal fertile man; *IV-10, 46,XX fertile woman; *IV-11, normal fertile man; *IV-12, 46,XY normal fertile man; *IV-27, 46,XX fertile woman; *V-3, 46,XY complete gonadal dysgenesis; *V-5, 46,XX fertile woman; *V-6, 46,XY male with ambiguous genitalia, bifid scrotum, and hypospadias, hypoplastic testes in scrotum; stretched penile length 5 cm; high gonadotropins (LH 20.9 IU/liter, FSH 59.1 IU/liter), infertile, testosterone 15.4 nmol/liter, estradiol 0.04 nmol/liter, prolactin 4.3 ng/ml; *V-7, normal woman; *V-8, normal man; *V-9, normal woman; *V-10, normal man; *V-11, 46,XX normal woman with normal hormones; *V-12, normal woman; *V-13, normal man; *V-16, normal woman; *V-20, normal man; V-21, infertile woman, tried in vitro fertilization without success; V-23, normal male; *V-28, 46,XY/45,X mixed gonadal dysgenesis, gonadoblastoma; *VI-1, normal woman; *VI-2, normal woman; *VI-3, normal woman; *VI-4, normal woman; *VI-5, normal man. *, Personal examination by M. Dumic.