Language
English
Publication Date
5-1-2026
Journal
Urology Case Reports
DOI
10.1016/j.eucr.2026.103417
PMID
41908849
PMCID
PMC13019929
PubMedCentral® Posted Date
3-18-2026
PubMedCentral® Full Text Version
Post-print
Abstract
Congenital aromatase deficiency is an autosomal recessive CYP19A1 loss-of-function disorder that blocks conversion of androgens to estrogens. A man with homozygous CYP19A1 c.628G > A (exon 5) presented with longstanding fatigue, low libido, and desire to maintain fertility. Physiologic estrogen replacement was started with transdermal estradiol 0.0375 mg. After three months of estrogen therapy, the patient reported markedly improved energy and libido. Follow-up evaluation showed a rise in serum estradiol with normalization of gonadotropins, while maintaining spermatogenesis. This case illustrates the essential role of estrogen in male physiology, sexual function, and fertility. Estradiol replacement can alleviate hypoestrogenic symptoms with preservation of spermatogenesis.
Published Open-Access
yes
Recommended Citation
Coady, Peyton; Walia, Arnaav; Hernandez, Beatriz; et al., "Congenital Aromatase Deficiency in an Adult Male: A Case Report of Clinical Course and Symptom Reversal With Estrogen Supplementation" (2026). Faculty, Staff and Students Publications. 7879.
https://digitalcommons.library.tmc.edu/baylor_docs/7879