Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

Table 1 Clinical, endocrine and genetic features of the 15 adolescents with primary amenorrhea and low testosterone

	External genitalia	Tanner stages	Uterus	Gonads pathology	T (ng/ml)	FSH (UI/l)	LH (UI/l)	Mutation	Inheritance	Protein consequences
Patient 1	Normal female	B3P3	Present	Streak gonads	0.66	33	9.4	SRY: c.292T>C	Hemizygous	p.Trp98Arg
Patient 2	Normal female	ND	Present	ND	< 0.1	13	2	SRY: c.319insA	Hemizygous	p.Trp107MetfsX21
Patient 3	Normal female	ND	ND	ND	< 0.1	ND	ND	SF1: c.1A>G	Heterozygous	p.Met1Val (probably p.0)
Patient 4	Clitoromegaly	ND	ND	Gonads in labia	< 0.1	ND	ND	SF1: c.116G>C	Heterozygous	p.Arg39Pro
Patient 5	Clitoromegaly	ND	ND	Testicular tissue/inguinal region	0.7	ND	ND	SF1: c.151delG	Heterozygous	p.Glu51ArgfsX23
Patient 6	Clitoromegaly + Virilization	ND	ND	ND	2,2 (post HCG)	ND	ND	SF1: c.369insC	Heterozygous	p.Pro124ProfsX24
Patient 7	Normal female	B1A2P5	Present	ND	0.3	40	18	SF1: c.1138G>T	Heterozygous	p.Asp380Tyr
Patient 8	Normal female	B1A3P3	ND	Presence of Sertoli cells	0.33	8.7	11.2	LHCGR: c.1395G>A	Homozygous	p.Trp465X
Patient 9	Normal female	ND	Absent	Streak gonads	0.35	102	28	None	-	-
Patient 10	Normal female	B1P1	ND	ND	0.38	135	42	None	-	-
Patient 11	Clitoromegaly + Hirsutism	ND	Present	Gonadoblastoma	0.3	ND	ND	None	-	-
Patient 12	Normal female	ND	Present	Streak gonads	< 0.1	78	46	None	-	-
Patient 13	Normal female	ND	ND	Gonadal dysgenesis	< 0.1	59	45.8	None	-	-
Patient 14	clitoris and labia agenesis	B2P4	Present	Left dysgerminoma, Right fibrous structure (few tubules)	0.14	71.7	18.6	None	-	-
Patient 15	Clitoromegaly	B1P4	Absent	ND	0.3	56.3	29.5	None	-	-

Normal ranges: basal T, 0.35-0.9 ng/ml; FSH, 1-12 UI/l; LH, 1-5 UI/l. Conversion to SI: T ng/ml × 3,47 for nmol/l.
ND: Not Determined

ISSN: 1477-7827