A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency
| Autor: | Ikue Hata, Reiko Horikawa, Toshiaki Tanaka, Yosuke Shigematsu, Keisuke Nagasaki, Kazuo Fujisawa |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
ambiguous genitalia
medicine.medical_specialty aromatase deficiency Original medicine.drug_class Endocrinology Diabetes and Metabolism Uterus Dehydroepiandrosterone maternal virilization Endocrinology Internal medicine medicine Aromatase female pseudohermaphroditism biology business.industry Virilization Micropenis medicine.disease Androgen medicine.anatomical_structure Pediatrics Perinatology and Child Health biology.protein Gestation medicine.symptom business Aromatase deficiency |
| Zdroj: | Clinical Pediatric Endocrinology |
| ISSN: | 1347-7358 0918-5739 |
| DOI: | 10.1297/cpe.13.59 |
| Popis: | Female pseudohermaphroditism is caused by several etiologies. Here we report a case of aromatase deficiency who showed ambiguous genitalia and maternal virilization during pregnancy. The mother had noticed her own virilization from 16 wk of gestation without androgen exposure and had low urinary estriol levels (5~10 μg/ml at 35 wk of gestation). At birth, the patient presented severe virilization (Prader V), and was assigned as a male with a micropenis and unpalpable testes but the patient had a normal female karyotype and a uterus and cystic ovaries found by magnetic resonance imaging. The patient had a increase in serum 17α-hydroxy progesterone levels (basal 4.9 → 37 ng/ml after a single 0.25 mg/m(2) infusion of ACTH), but the increase in adrenal androgen was not sufficient to virilize the external genitalia. Dehydroepiandrosterone, 17α-hydroxy pregnenolone and deoxycorticosterone were within the normal ranges. These findings suggested a diagnosis of nonadrenal female pseudohermaphroditism. From the clinical features and biochemical data, we endocrinologically diagnosed her as having an aromatase deficiency. The aromatase gene is now under investigation for definite diagnosis. We finally agreed that aromatase deficiency should be suspected when both the mother and the newborn have been virilized. |
| Databáze: | OpenAIRE |
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