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

doi:10.3109/09513590.2015.1106472

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	14-17
Number of pages	4
Journal	Gynecological Endocrinology
Volume	32
Issue number	1
DOIs	https://doi.org/10.3109/09513590.2015.1106472
Publication status	Published - Jan 2 2016

Keywords

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

ASJC Scopus subject areas

Endocrinology
Endocrinology, Diabetes and Metabolism
Obstetrics and Gynaecology

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10.3109/09513590.2015.1106472

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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 journal › Article › peer-review

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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.",

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AU - Gimelli, Giorgio

AU - Gastaldi, Roberto

AU - Bonatti, Fabrizia

AU - Ravazzolo, Roberto

AU - Bocciardi, Renata

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

Abstract

Keywords

ASJC Scopus subject areas

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