Table 2.

Metabolic syndrome-like phenotype in adult male and female patients with aromatase deficiency

Variable	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8	IDF criteria for the metabolic syndrome	Normal range
Sex	Male	Male	Male	Male	Male	Male	Male	Female
Age (years)	24	31	27	29	25	26	27	32
CYP19A1 mutation(s)	P.R375C	P.R365Q	c.IVS5-3C>A	P.E210K	P.M127R; P.R375H	c.312–334del; C.IVS9 + 1G>T	P.R375H	p.A306_S314dup
Body mass index (BMI)	32.5	27.6	30.9	27.6	35.8	29.3	25.7			<25
Waist circumference (cm)			124		122	121	102	131	≥ 94 (men); ≥ 80 (women)*
Blood pressure (mmHg)	158/72	Normal	125/80				125/75	130–145/80–100	≥ 130/ ≥ 85
Fasting glucose (mmol/l)	3.9	4.9	Normal	10	5.6	4.1	5.4	6.1	≥ 5.6
Fasting insulin (μIU/ml)	52	22		94	42	62.8	9.89	57		5–25
HOMA for insulin resistance	9	4.8	3.6	41.7	10.6	11.3	2.4	15.5		<2.5
Hemoglobin A1c (%)	7.4			8.3	5.5	5.6		6.7		4.5–6
Total cholesterol (mmol/l)	6.2	7.9	4.6	4.6	5.6	5.6	6.4	5.9		<5.2
LDL cholesterol (mmol/l)	3.6	5.4	2.9	2.8	3.4	3.7	4.2	3.6		<3.3
HDL cholesterol (mmol/l)	0.93	1.11	0.54	0.8	0.82	0.98	1.04	1.4	<1.03 (men); <1.29
Triglycerides (mmol/l)	3.6	3.4	3	2.2	2.9	1	2.2	2	(women) ≥ 1.7
Aminoleucine transferase (U/l)	Normal			195	104	72		41		<37
Aspartate aminotransferase (U/l)	74			108	60	24		38		<40
Liver steatosis				Yes	Yes	Yes	Yes	Yes
Reference	Morishima et al., 1995	Carani et al., 1997	Herrmann et al., 2002	Maffei et al., 2004	Maffei et al., 2007	Lanfranco et al., 2008	Baykan et al., 2013	Gagliardi et al., 2014	Alberti et al., 2005

^*The waist circumference cutoff is for white people of European origin; IDF denotes International Diabetes Federation, HOMA homeostasis model assessment, LDL low-density lipoprotein, and HDL high-density lipoprotein.