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Article

Next-Generation Sequencing Identifies Different Genetic Defects in 2 Patients with Primary Adrenal Insufficiency and Gonadotropin-Independent Precocious Puberty.

Hormone research in paediatrics - 1 Jan 2018

Guzzetti Chiara, Bizzarri Carla, Pisaneschi Elisa, Mucciolo Mafalda, Bellacchio Emanuele, Ibba Anastasia, Casula Letizia, Novelli Antonio, Loche Sandro, Cappa Marco

Abstract excerpt

BACKGROUND: The development of gonadotropin-independent (peripheral) precocious puberty in male children with primary adrenal insufficiency (PAI) is consistent with a defect in the genes encoding for the enzymes involved in steroid hormone biosynthesis. METHODS: Two young boys presented with peripheral precocious puberty followed by PAI. In both patients, the analysis of CYP21A2 gene encoding 21-hydroxylase was...

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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: 30179867
DOI: 10.1159/000492496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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