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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Aromatase deficiency, a rare syndrome: case report
Emine Kartal Baykan1, Mehmet Erdoğan, Samim Özen
1Ege University Faculty of Medicine, İnternal Medicine Department of Endocrinology and Metabolism Unit, İzmir, Turkey. emnkrtl@hotmail.com
Journal of Clinical Research in Pediatric Endocrinology
|June 11, 2013
Summary
Aromatase deficiency (AD) is a rare genetic disorder causing low estrogen. Early diagnosis and estrogen replacement therapy are crucial for bone health and preventing fractures in affected individuals.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Bone Disease
Background:
- Aromatase deficiency (AD) is a rare autosomal recessive condition.
- It results from mutations in the CYP19A1 gene, impairing estrogen synthesis.
- Estrogen deficiency leads to skeletal abnormalities like delayed epiphyseal closure and osteopenia.
Observation:
- A 27-year-old male presented with bone pain, recurrent fractures, and eunuchoid habitus.
- Laboratory findings included elevated gonadotropins, normal testosterone, and undetectable estrogen.
- Radiography showed unfused epiphyses, and bone densitometry revealed osteoporosis.
Findings:
- Genetic analysis identified a homozygous R375H G-A mutation in the CYP19A1 gene.
- The patient was diagnosed with aromatase deficiency and initiated on transdermal estradiol.
- Family screening revealed homozygous mutation in a sibling and heterozygous mutations in parents and another sibling.
Implications:
- Lifetime estrogen replacement is necessary for bone mineralization and fracture prevention in AD patients.
- Early diagnosis and pubertal initiation of estrogen therapy are vital to prevent long-term skeletal complications.
- This case highlights the importance of genetic testing and hormonal management in rare endocrine disorders.
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