Hypogonadotropic hypogonadism in a trisomy X carrier

Phenotype description and genotype correlation

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

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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 known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition.

Original languageEnglish
Pages (from-to)14-17
Number of pages4
JournalGynecological Endocrinology
Volume32
Issue number1
DOIs
Publication statusPublished - Jan 2 2016

Fingerprint

Hypogonadism
Cytogenetic Analysis
Genetic Association Studies
Chromosome Deletion
Amenorrhea
Genetic Counseling
Infertility
Uterus
Alleles
Hormones
Genes
Triple X syndrome

Keywords

  • 4q13.2
  • deletion
  • genetic counseling
  • GNRHR
  • Hypogonadotropic hypogonadism
  • trisomy X

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Obstetrics and Gynaecology

Cite this

Hypogonadotropic hypogonadism in a trisomy X carrier : Phenotype description and genotype correlation. / Fiorio, Patrizia; Rosaia De Santis, Lucia; Cuoco, Cristina; Gimelli, Giorgio; Gastaldi, Roberto; Bonatti, Fabrizia; Ravazzolo, Roberto; Bocciardi, Renata.

In: Gynecological Endocrinology, Vol. 32, No. 1, 02.01.2016, p. 14-17.

Research output: Contribution to journalArticle

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