Aromatase deficiency, a rare syndrome: case report.
Level 4 - case-series / case-control
Single case report with family genetic analysis
PubMed 23748068 · doi:10.4274/Jcrpe.970
What was done
Clinical, hormonal, radiological, and genetic evaluation of a 27-year-old male presenting with bone pain, recurrent minimal-trauma fractures since puberty, and progressive growth. Assessments included measuring serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone, and estrogen; left wrist and hand radiography to evaluate epiphyseal fusion; lumbar bone densitometry; and CYP19A1 gene sequencing in the patient and his family members. Transdermal estradiol (25 μg) was initiated.
What was found
Laboratory testing revealed undetectable estrogen, elevated FSH and LH, and normal testosterone. Radiography confirmed unfused epiphyses at age 27, and densitometry showed lumbar osteoporosis. Genetic sequencing identified a homozygous R375H (G-A) mutation in the CYP19A1 gene. Familial testing detected the same homozygous mutation in his younger brother, while his mother, father, and older brother were heterozygous carriers. No quantitative hormone or densitometry values were provided in the abstract.
Why it matters
This case illustrates the indispensable role of estrogen in male epiphyseal closure and bone mineralization, highlighting aromatase deficiency as an identifiable cause of prolonged linear growth and early osteoporosis.
Limits
Single case report. The abstract lacks quantitative baseline laboratory and densitometric values, and does not provide follow-up data or clinical response outcomes following estradiol therapy.
Cited by
- supports Pre-pubertal castration of males prevents epiphyseal growth plates from fully closing and leads to osteoporosis due to the lack of aromatization of testosterone to estrogen.