ISSN: 1308-5727 | E-ISSN: 1308-5735
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Turkish Society for Pediatric Endocrinology and Diabetes
Aromatase Deficiency, a Rare Syndrome: Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2013; 5(2): 129-132 | DOI: 10.4274/Jcrpe.970

Aromatase Deficiency, a Rare Syndrome: Case Report

Emine Kartal Baykan1, Mehmet Erdoğan1, Samim Özen2, Şükran Darcan2, L. Füsun Saygılı1
1Ege University Faculty of Medicine, İnternal Medicine Department of Endocrinology and Metabolism Unit, İzmir, Turkey
2Ege University Faculty of Medicine, Department of Pediatric Endocrinology and Metabolism Unit, İzmir, Turkey

Aromatase 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 µg 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.

Keywords: Aromatase deficiency, delayed epiphyseal closure, estrogen deficiency, replacement therapy

Emine Kartal Baykan, Mehmet Erdoğan, Samim Özen, Şükran Darcan, L. Füsun Saygılı. Aromatase Deficiency, a Rare Syndrome: Case Report. J Clin Res Pediatr Endocrinol. 2013; 5(2): 129-132
Manuscript Language: English
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