Abstract
Maleness associated with a 45,X karyotype is a rare condition in childhood. It is usually diagnosed in adult age because of infertility. We report a unique case of an unbalanced translocation t(Y;21) in a 14-year-old boy with 45,X karyotype referred because of short stature, thin habitus and puberty delay. Hormone analysis showed low serum levels of basal testosterone, insulin-like growth factor (IGF-I) and gonadotrophins. Diagnosis of GH deficiency and puberty delay were made. He was treated with human chorionic gonadotropin (hCG) and GH therapy, respectively, for 6 and 24 months.
MeSH terms
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Adolescent
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Chorionic Gonadotropin / genetics
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Chorionic Gonadotropin / metabolism
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Chorionic Gonadotropin / therapeutic use*
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Chromosome Deletion
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Chromosomes, Human, Pair 21
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Chromosomes, Human, X
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Chromosomes, Human, Y
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Cytogenetic Analysis
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Drug Therapy, Combination
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Growth Disorders / etiology
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Growth Disorders / prevention & control
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Human Growth Hormone / genetics
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Human Growth Hormone / metabolism
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Human Growth Hormone / therapeutic use*
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Humans
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In Situ Hybridization, Fluorescence
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Male
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Noonan Syndrome / diagnosis
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Noonan Syndrome / drug therapy*
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Noonan Syndrome / genetics
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Noonan Syndrome / physiopathology
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Puberty, Delayed / etiology
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Puberty, Delayed / prevention & control
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Recombinant Proteins / metabolism
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Recombinant Proteins / therapeutic use
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Thinness / etiology
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Thinness / prevention & control
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Translocation, Genetic
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Treatment Outcome
Substances
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Chorionic Gonadotropin
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Recombinant Proteins
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Human Growth Hormone