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Article

A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency.

International journal of environmental research and public health - 4 Jun 2022

Saltarelli Maria Alessandra, Ferrante Rossella, Marcello Francesca Di, David Daniela, Valentinuzzi Silvia, Pilenzi Lucrezia, Federici Luca, Rossi Claudia, Stuppia Liborio, Tumini Stefano

Abstract excerpt

Disorders of sexual development (DSDs) are characterized by a heterogeneous group of congenital conditions associated with atypical development of the sex chromosomes, gonadal or anatomical sex. We report the case of a child with an isolated micropenis, a typical feature of the 46,XY DSD showing low basal testosterone levels and post-stimulation with the hCG test. Molecular analysis using a next-generation...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35682463
DOI: 10.3390/ijerph19116880
PMCID: PMC9180258

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A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency.PMID 35682463Read ↗

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Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.Semantic proximity Read ↗

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