A Case of Female Pseudohermaphroditism Caused by Aromatase Deficiency

DOI Web Site 参考文献23件
  • Nagasaki Keisuke
    Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences Division of Endocrinology and Metabolism, National Center for Child Health and Development
  • Horikawa Reiko
    Division of Adolescent Medicine, National Center for Child Health and Development
  • Fujisawa Kazuo
    Department of Pediatrics, University of Fukui, Faculty of Medicine
  • Hata Ikue
    Department of Pediatrics, University of Fukui, Faculty of Medicine
  • Shigematsu Yosuke
    Department of Pediatrics, University of Fukui, Faculty of Medicine
  • Tanaka Toshiaki
    Division of Endocrinology and Metabolism, National Center for Child Health and Development

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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/m2 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.<br>

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