Talk:Klinefelter syndrome

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Cite this page: Hill, M.A. (2021, December 7) Embryology Klinefelter syndrome. Retrieved from


J Endocrinol Invest. 2019 Mar 25. doi: 10.1007/s40618-019-01037-2. [Epub ahead of print] Thyroid function in Klinefelter syndrome: a multicentre study from KING group. Balercia G1, Bonomi M2,3, Giagulli VA4, Lanfranco F5, Rochira V6,7, Giambersio A8, Accardo G9, Esposito D10, Allasia S5, Cangiano B2,3, De Vincentis S6,7, Condorelli RA11, Calogero A11, Pasquali D12; KING group. Collaborators (44) Author information Abstract PURPOSE: The prevalence and the etiopathogenesis of thyroid dysfunctions in Klinefelter syndrome (KS) are still unclear. The primary aim of this study was to evaluate the pathogenetic role of hypogonadism in the thyroid disorders described in KS, with the scope to distinguish between patients with KS and hypogonadism due to other causes (Kallmann syndrome, idiopathic hypogonadotropic hypogonadism, iatrogenic hypogonadism and acquired hypogonadotropic hypogonadism after surgical removal of pituitary adenomas) called non-KS. Therefore, we evaluated thyroid function in KS and in non-KS hypogonadal patients. METHODS: This is a case-control multicentre study from KING group: Endocrinology clinics in university-affiliated medical centres. One hundred and seventy four KS, and sixty-two non-KS hypogonadal men were enrolled. The primary outcome was the prevalence of thyroid diseases in KS and in non-KS. Changes in hormonal parameters were evaluated. Exclusion criterion was secondary hypothyroidism. Analyses were performed using Student's t test. Mann-Whitney test and Chi-square test. RESULTS: FT4 was significantly lower in KS vs non-KS. KS and non-KS presented similar TSH and testosterone levels. Hashimoto's thyroiditis (HT) was diagnosed in 7% of KS. Five KS developed hypothyroidism. The ratio FT3/FT4 was similar in both groups. TSH index was 1.9 in KS and 2.3 in non-KS. Adjustment for differences in age, sample size and concomitant disease in multivariate models did not alter the results. CONCLUSIONS: We demonstrated in KS no etiopathogenic link to hypogonadism or change in the set point of thyrotrophic control in the altered FT4 production. The prevalence of HT in KS was similar to normal male population, showing absence of increased risk of HT associated with the XXY karyotype. KEYWORDS: Hashimoto’s thyroiditis; Hypergonadotropic hypogonadism; Klinefelter syndrome; Testosterone; Thyroid diseases; Thyroid hormones PMID: 30912057 DOI: 10.1007/s40618-019-01037-2


J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):100-107. doi: 10.4274/jcrpe.5121. Epub 2017 Oct 12. Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings Akcan N1, Poyrazoğlu Ş2, Baş F2, Bundak R3, Darendeliler F2. Author information Abstract 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. KEYWORDS: Ambigious genitalia; cryptorchidism; disorders of sex development; speech impairment PMID: 29022558 PMCID: PMC5985377 DOI: 10.4274/jcrpe.5121