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 journalArticlepeer-review


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
Issue number1
Publication statusPublished - Jan 2 2016


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

ASJC Scopus subject areas

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


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