Aromatase Deficiency in a Male Patient: Case Report and Literature Review
October 2016
in “
Bone
”
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Studysummary This case report describes a male patient with aromatase deficiency, revealing that a c.628G>A mutation can lead to varied clinical features, such as low bone mass and normal metabolic profiles.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
The document detailed a case of a 25-year-old male with aromatase deficiency, a condition where the body cannot convert androgens to estrogens due to a mutation in the CYP19A1 gene. The patient had low bone mass and a delayed bone age but did not show common symptoms like insulin resistance or obesity. Genetic testing confirmed a c.628 G>A mutation in the aromatase gene. Treatment with estradiol improved his bone mass and closed growth plates. This case was unique because the patient had normal levels of FSH, LH, and testosterone, and experienced dental cavities and hair loss, which might be linked to estrogen deficiency. The case suggests that the c.628 G>A mutation may lead to a milder phenotype of aromatase deficiency and highlights the role of estradiol in pituitary feedback. The study focused on a single patient and contributed to the understanding of the variability in clinical presentation of aromatase deficiency.
