Abstract
A case of male pseudohermaphroditism with adrenal failure and female external genitalia is described. The hormonal pattern and the clinical evolution of the patient are compatible to a partial 17 alpha hydroxylase deficiency.
Publication types
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Case Reports
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English Abstract
MeSH terms
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Adrenal Hyperplasia, Congenital*
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Adrenocorticotropic Hormone / blood
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Consanguinity
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Disorders of Sex Development / drug therapy
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Disorders of Sex Development / etiology*
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Disorders of Sex Development / genetics
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Humans
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Hydrocortisone / blood
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Infant
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Karyotyping
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Male
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Methylprednisolone / therapeutic use
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Steroid Hydroxylases / deficiency*
Substances
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Adrenocorticotropic Hormone
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Steroid Hydroxylases
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Hydrocortisone
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Methylprednisolone