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.
Keywords:
4q13.2; GNRHR; Hypogonadotropic hypogonadism; deletion; genetic counseling; trisomy X.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amenorrhea / genetics*
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Amenorrhea / metabolism
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Amenorrhea / physiopathology
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Chromosomes, Human, Pair 4 / genetics
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Chromosomes, Human, X / genetics
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Chromosomes, Human, X / metabolism
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Female
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Gene Deletion
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Genotype
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Gonadotropins / metabolism
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Humans
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Hypogonadism / genetics*
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Hypogonadism / metabolism
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Hypogonadism / physiopathology
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Infertility, Female / genetics*
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Infertility, Female / metabolism
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Infertility, Female / physiopathology
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Karyotype
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Phenotype
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Receptors, LHRH / genetics*
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Sequence Analysis, DNA
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Sex Chromosome Aberrations
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Sex Chromosome Disorders of Sex Development / genetics*
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Sex Chromosome Disorders of Sex Development / metabolism
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Sex Chromosome Disorders of Sex Development / physiopathology
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Trisomy / genetics*
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Trisomy / physiopathology
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Uterus / abnormalities*
Substances
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GNRHR protein, human
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Gonadotropins
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Receptors, LHRH