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.