Klinefelter syndrome and short stature: an unusual combination

Bahíllo‐Curieses, M. Pilar; Fournier-Carrera, M.; Morán-López, J.; Martínez-Sopena, M. J.

doi:10.1007/s12020-011-9454-5

Cited by 12 publications

(6 citation statements)

References 3 publications

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“…Rossodivita et al ( 6 ) reported an 8-year-old boy with short stature and cryptorchidism who was later diagnosed to have KS and GH deficiency. Bahillo Curieses et al ( 7 ) reported a similar combination in a child receiving GH therapy when evaluated for delayed puberty, but the brain MRI was reported as normal in this patient. Ben-Skowronek et al ( 8 ) and Tori et al ( 9 ) also reported similar combination of KS and GH deficiency.…”

Section: Discussionmentioning

confidence: 72%

An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child

Ramesh¹,

Nagasatyavani²,

Venkateswarlu³

et al. 2014

Jcrpe

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Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy’s height was below the 3rd centile with significant delay in bone age. He responded well to growth hormone injections. In view of mental subnormality karyotyping was done, which revealed KS (47XXY).

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Section: Discussionmentioning

confidence: 72%

An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child

Ramesh¹,

Nagasatyavani²,

Venkateswarlu³

et al. 2014

Jcrpe

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“…In our cohort, only one case, who had also a prenatal diagnosis, presented with short stature when he was aged three years. There are a few reported cases of KS with short stature, secondary to growth hormone deficiency ( 14 , 15 ). However, we did not detect growth hormone deficiency in this patient.…”

Section: Discussionmentioning

confidence: 99%

Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

Akcan

Poyrazoğlu

Baş

et al. 2018

Jcrpe

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Objective:Klinefelter syndrome (KS) is the most common (1/500–1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of children with KS to assess the age and presenting symptoms for diagnosis, clinical and laboratory findings, together with the presence of comorbidities.Methods:Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density and karyotype were evaluated. Molecular analysis was also conducted in patients with ambiguous genitalia.Results:The median age of patients at presentation was 3.0 (0.04-16.3) years. Most of the cases were diagnosed prenatally (n=15, 65.2%). Other reasons for admission were scrotal hypospadias (n=3, 14.3%), undescended testis (n=2, 9.5%), short stature (n=1, 4.8%), isolated micropenis (n=1, 4.8%) and a speech disorder (n=1, 4.8%). The most frequent clinical findings were neurocognitive disorders, speech impairment, social and behavioral problems and undescended testes. All except two patients were prepubertal at admission. Most of the patients (n=20, 86.9%) showed the classic 47,XXY karyotype. Steroid 5 alpha-reductase 2 gene and androgen receptor gene mutations were detected in two of the three cases with genital ambiguity.Conclusion:Given the large number of underdiagnosed KS patients before adolescence, pediatricians need to be aware of the phenotypic variability of KS in childhood. Genetic analysis in KS patients may reveal mutations associated with other forms of disorders of sex development besides KS.

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“…In children, work up is usually done in patients with tall stature and gynecomastia in combination with a learning disability. Although tall stature, with slender body habitus is one of the most common clinical finding of patients with KS, some uncommon variants are associated with short stature (49 XXXXXY, isochrome Xq) [1]. Few reported cases of KS has been reported in patients with short stature due to growth hormone deficiency [1,2].…”

Section: Discussionmentioning

confidence: 99%

Klinefelter Syndrome in a Patient with Type 1 Diabetes and Growth Arrest: An Atypical Combination

2018

Endocrinol Diabetes Metab J

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Klinefelter Syndrome (KS) occurs in about 1 in 1,000 males. Affected individuals with this condition have an additional X chromosome or 47, XXY. Clinical findings are usually not evident at birth and are non-specific such as tall stature, learning disabilities and gynecomastia during childhood. Diagnosis is commonly made in adulthood when they present with infertility or gynecomastia. Tall stature is also one of the most common findings in affected individuals. Patients are also at increased risk of developing autoimmune conditions such as type-1 diabetes, thyroiditis and rheumatological disorders. We present a case of a patient with type-1 diabetes subsequently diagnosed with Klinefelter syndrome after presenting with growth arrest. Physical exam revealed testicular volume of 5ml bilaterally with sexual maturity rating of 5. This emphasizes the importance of pubertal exam in every adolescent patient.

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Klinefelter syndrome and short stature: an unusual combination

Cited by 12 publications

References 3 publications

An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child

An Unusual Combination of Klinefelter Syndrome and Growth Hormone Deficiency in a Prepubertal Child

Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

Klinefelter Syndrome in a Patient with Type 1 Diabetes and Growth Arrest: An Atypical Combination

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