Aromatase Deficiency, a Rare Syndrome: Case Report

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dc.contributor.authorBaykan, Emine Kartal
dc.contributor.authorErdogan, Mehmet
dc.contributor.authorOzen, Samim
dc.contributor.authorDarcan, Sukran
dc.contributor.authorSaygili, L. Fusun
dc.date.accessioned2019-10-27T21:42:12Z
dc.date.available2019-10-27T21:42:12Z
dc.date.issued2013
dc.departmentEge Üniversitesien_US
dc.description.abstractAromatase deficiency (AD) is a rare autosomal recessive inheritance syndrome. Its worldwide incidence is unknown, and there are few case reports in the literature. Aromatase dysfunction develops due to CYP19A1 gene mutation and a decrease in estrogen synthesis. Estrogen deficiency can induce delayed epiphyseal closure, eunuchoid body habitus, osteopenia, and osteoporosis in both genders. Our patient was a 27-year-old male who presented with bone pain, recurrent bone fractures associated with minimal trauma starting in puberty, and a progressive increase in height. Laboratory tests revealed that the blood levels of follicle-stimulating hormone and luteinizing hormone were above normal, testosterone level was normal, and estrogen was undetectable. Plain bone radiography of the left wrist and hand demonstrated that the epiphyses were still unfused. Lumbar osteoporosis was detected in bone densitometry. In the genetic analysis, homozygous R375H guanine-adenine (G-A) mutation was detected in the CYP19A1 gene, and a diagnosis of AD was reached. Treatment with 25 mu g transdermal estradiol was started. All family members were examined. Homozygous R375H G-A mutation was detected in the patient's younger brother. Heterozygous R375H G-A mutation was found in his mother, father, and older brother. In conclusion, this AD patient requires lifetime estrogen replacement in order to provide sufficient bone mineralization, to reduce the risk of bone fractures, and to lead a healthy life. The best method to prevent the possible complications is to diagnose the AD syndrome at early ages and to provide adequate estrogen replacement starting at puberty.en_US
dc.identifier.doi10.4274/Jcrpe.970en_US
dc.identifier.endpage132en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue2en_US
dc.identifier.pmid23748068en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage129en_US
dc.identifier.urihttps://doi.org/10.4274/Jcrpe.970
dc.identifier.urihttps://hdl.handle.net/11454/46841
dc.identifier.volume5en_US
dc.identifier.wosWOS:000339649300013en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Pediatric Endocrinology & Diabetes Societyen_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAromatase deficiencyen_US
dc.subjectdelayed epiphyseal closureen_US
dc.subjectestrogen deficiencyen_US
dc.subjectreplacement therapyen_US
dc.titleAromatase Deficiency, a Rare Syndrome: Case Reporten_US
dc.typeArticleen_US

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