A case of Aromatase deficiency due to a novel CYP19A1 mutation

BMC Endocrine Disorders

Table 1 Biochemical evaluation of the patient

Test	Patient	Reference range
Follicle stimulating hormone	32	<12 mIU/L**
Luteinizing hormone	17	<12 mIU/L**
Testosterone	0.89	<2 nmol/L
Progesterone	<2	<6 nmol/L*
Sex-hormone binding globulin	45	25-90 nmol/L
Dehydroepiandrosterone sulphate	5.2	1-8.5 μmol/L
17-hydroxyprogesterone	2.4	0.2-11.3 nmol/L
Anti-mullerian hormone	<3 pmol/L	(below 25^th percentile for age)
Thyroid-stimulating hormone	2.2	0.5-4 mIU/L
Free thyroxine	15	10-25 pmol/L
Oral glucose tolerance test - fasting glucose	6.1	<5.2 mmol/L
Oral glucose tolerance test – 2 hour glucose	7.5	<7.8 mmol/L
Glycosylated haemoglobin	6.7, 7.1	<5.5%
Fasting insulin	57	<12 mU/L
Total cholesterol	5.9	<5.5 mmol/L
HDL-cholesterol	1.4	1.0-2.2 mmol/L
LDL-cholesterol	3.6	<3.7 mmol/L
Triglycerides	2	0.3-2 mmol/L
Bilirubin	8	2-24 μmol/L
Gamma-glutamyl transpeptidase (GGT)	21	<60 U/L
Alkaline phosphatase (ALP)	134	30-100 U/L
Alanine aminotransferase (ALT)	41	<55 U/L
Aspartate aminotransferase (AST)	38	<45 U/L

*Hormone measurements were made whilst the patient was on oestrogen replacement.
**Reference range quoted is for the follicular phase of the menstrual cycle.

ISSN: 1472-6823