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. 2020 Mar 10;4(4):bvaa030. doi: 10.1210/jendso/bvaa030

Table 2.

Clinical and biochemical characteristics of four 46,XX patients with aromatase deficiency

Laboratory Findings
Pt ID Origin Maternal virilization Age at Manifestation/Follow-up Genital Phenotype Pubertal Development (Tanner stage) Ovarian Phenotype T, nmol/L DHEAS, µmol/L 4A, nmol/L 17OHP, nmol/L Cortisol, nmol/L E2, pmol/L LH, IU/L FSH, IU/L
1 African Yes Birth Prader IV NA NK 3.41 55.9
10 d 2.03 1.34 4.85 11.92 504
1 mo 0.19 0.35 0.8 3.85 305 < 18
4 mo (minipuberty) 0.38 1.04
2 Indian No Birth Atypical genitalia NA
3 y Prader IV NA See Figure 3. < 0.45 5 745a NM < 1 12
3 Indian Maybe 14 y Clitoromegaly B3/P4/A3 Polycystic ovaries, ovarian torsion 2.06 1.93 2.03 648a 58.7 39.9 10.98
4 Indian Yes 14 y Clitoromegaly B3/P4/A3 Polycystic ovaries 2.6 3.58 1.38 634a <18 32 37

Laboratory values outside the normative range are shown in bold.

Abbreviations: 4A, androstenedione; 17OHP, 17α-hydroxyprogesterone; DHEAS, dehydroepiandrosterone-sulfate; E2, estradiol; FSH, follicle-stimulating hormone; LH, luteinizing hormone; NA, not applicable; NK, not known; NM, not measurable; Pt, patient; T, testosterone.

aAdrenocorticotropin-stimulated 60-minute values.