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Article

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Jan 2016

Fiorio Patrizia, Rosaia De Santis Lucia, Cuoco Cristina, Gimelli Giorgio, Gastaldi Roberto, Bonatti Fabrizia, Ravazzolo Roberto, Bocciardi Renata

Abstract excerpt

We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26572316
DOI: 10.3109/09513590.2015.1106472

Genes

GNRHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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