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

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

  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 - -
  1. 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.
  2. ND: Not Determined