title: Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.
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.
authors.affiliation: a UOS Laboratorio di Citogenetica, Istituto Giannina Gaslini , Genova , Italy .
authors.forename: Patrizia
authors.initials: P
authors.lastname: Fiorio
authors.affiliation: b UOSD Genetica Medica, PO S. Andrea ASL5 Spezzino , La Spezia , Italy .
authors.forename: Lucia
authors.initials: L
authors.lastname: Rosaia De Santis
authors.affiliation: a UOS Laboratorio di Citogenetica, Istituto Giannina Gaslini , Genova , Italy .
authors.forename: Cristina
authors.initials: C
authors.lastname: Cuoco
authors.affiliation: a UOS Laboratorio di Citogenetica, Istituto Giannina Gaslini , Genova , Italy .
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gimelli
authors.affiliation: c UOC Clinica Pediatrica, Istituto Giannina Gaslini , Genova , Italy .
authors.forename: Roberto
authors.initials: R
authors.lastname: Gastaldi
authors.affiliation: b UOSD Genetica Medica, PO S. Andrea ASL5 Spezzino , La Spezia , Italy .
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Bonatti
authors.affiliation: d UOC Genetica Medica, Istituto Giannina Gaslini , Genova , Italy , and.|e DiNOGMI Università degli Studi di Genova and CEBR , Genova , Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
authors.affiliation: d UOC Genetica Medica, Istituto Giannina Gaslini , Genova , Italy , and.|e DiNOGMI Università degli Studi di Genova and CEBR , Genova , Italy.
authors.forename: Renata
authors.initials: R
authors.lastname: Bocciardi
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics / Q000378:metabolism; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006062:Gonadotropins / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D007247:Infertility, Female / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D059785:Karyotype; D010641:Phenotype; D011966:Receptors, LHRH / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D014314:Trisomy / Q000235:genetics* / Q000503:physiopathology; D014599:Uterus / Q000002:abnormalities*
chemical_list: C484844:GNRHR protein, human; D006062:Gonadotropins; D011966:Receptors, LHRH
keywords: 4q13.2; GNRHR; Hypogonadotropic hypogonadism; deletion; genetic counseling; trisomy X