Klinefelter syndrome: Difference between revisions
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* '''Klinefelter syndrome | * '''Onset and progression of puberty in Klinefelter syndrome'''{{#pmid:34523156|PMID34523156}} "Our results suggest that puberty starts within the normal age limits in boys with KS, and testosterone supplementation is not needed for the initial pubertal progression in the majority of patients." | ||
* '''Klinefelter | * '''Klinefelter syndrome: a multicentre study from KING group.'''{{#pmid:30912057|PMID30912057}} "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." | ||
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Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Klinefelter+syndrome ''Klinefelter syndrome''] | Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Klinefelter+syndrome ''Klinefelter syndrome''] | [http://www.ncbi.nlm.nih.gov/pubmed/?term=karyotype+47,XXY ''karyotype 47,XXY''] | ||
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* '''Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings'''{{#pmid:29022558|PMID29022558}} "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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==Diagnosis== | ==Diagnosis== | ||
[[File:Karyotype of a Klinefelter's syndrome patient.jpg|thumb|Karyotype of a Klinefelter's syndrome patient{{#pmid:21716934|PMID21716934}}]] | |||
Cytogenetics Tests | Cytogenetics Tests | ||
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{{#pmid:29438472}} | {{#pmid:29438472}} | ||
{{#pmid:15262106}} | |||
===Articles=== | ===Articles=== | ||
Latest revision as of 15:43, 1 December 2021
Embryology - 29 Mar 2024 Expand to Translate |
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LD50.3 Klinefelter syndrome
ICD-11 LD50.3 Klinefelter syndrome |
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Introduction
Klinefelter syndrome (47,XXY, XXY syndrome or condition, XXY trisomy) affects male physical and cognitive development. The extra copy of genes on the X chromosome interferes with male sexual development and can prevent the normal function of the testis testes, reducing the levels of testosterone. The signs and symptoms vary among affected individuals.
Rare variations include 47,XXY/46,XY (mosaic syndrome) and Poly-X Klinefelter syndrome: 48,XXYY (or tetrasomy), 48,XXXY (or tetrasomy) and 49,XXXXY (or pentasomy).
First described in 1942 by Dr Harry Klinefelter.[1]
Genital System - Abnormalities
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Klinefelter syndrome | karyotype 47,XXY |
Older papers |
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These papers originally appeared in the Some Recent Findings table, but as that list grew in length have now been shuffled down to this collapsible table.
See also the Discussion Page for other references listed by year and References on this current page.
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Features
Affects male physical and cognitive development. Small testes that do not produce as much testosterone as usual.
- delayed or incomplete puberty, breast enlargement (gynecomastia), reduced facial and body hair, and an inability to have biological children (infertility).
- Some affected individuals also have genital differences - undescended testes (cryptorchidism), (hypospadias), or an unusually small penis (micropenis).
- Children may have learning disabilities and delayed speech and language development. Tend to be quiet, sensitive, and unassertive, but personality characteristics vary among affected individuals.
- Older children and adults tend to be taller than their peers.
(Text modified from Genetics Home Reference - Klinefelter syndrome)
Diagnosis
Cytogenetics Tests
- Karyotyping
- FISH-interphase
Molecular Genetics Tests
- Detection of homozygosity
- Deletion/duplication analysis
- Targeted variant analysis
- Sequence analysis of the entire coding region
48,XXYY and 48,XXXY
Much less frequent variants
- 48,XXYY - 1 per 17,000 male births.
- often tall, may have an eunuchoid habitus with long legs, sparse body hair, small testicles and penis, hypergonadotropic hypogonadism, and gynecomastia. IQ level is in the range of 60–80, with delayed speech.
- 48,XXXY - 1 per 50,000 male births.
- prone to hyperactivity, aggression, conduct, and depression compared to males with 47,XXY.
References
- ↑ Klinefelter HF. Reifenstein EC. and Albright F. Syndrome characterized by gynecomastia aspermatogenes without A-Leydigism and increased excretion of follicle stimulating hormone. (1942) J Clin Endocrinol Metab. 2:615–627.
- ↑ Tanner M, Miettinen PJ, Hero M, Toppari J & Raivio T. (2021). Onset and progression of puberty in Klinefelter syndrome. Clin Endocrinol (Oxf) , , . PMID: 34523156 DOI.
- ↑ Balercia G, Bonomi M, Giagulli VA, Lanfranco F, Rochira V, Giambersio A, Accardo G, Esposito D, Allasia S, Cangiano B, De Vincentis S, Condorelli RA, Calogero A & Pasquali D. (2019). Thyroid function in Klinefelter syndrome: a multicentre study from KING group. J Endocrinol Invest , 42, 1199-1204. PMID: 30912057 DOI.
- ↑ Akcan N, Poyrazoğlu Ş, Baş F, Bundak R & Darendeliler F. (2018). Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings. J Clin Res Pediatr Endocrinol , 10, 100-107. PMID: 29022558 DOI.
- ↑ Shamsi MB, Kumar K & Dada R. (2011). Genetic and epigenetic factors: Role in male infertility. Indian J Urol , 27, 110-20. PMID: 21716934 DOI.
Reviews
Bearelly P & Oates R. (2019). Recent advances in managing and understanding Klinefelter syndrome. F1000Res , 8, . PMID: 30755791 DOI.
Giudice MG, Del Vento F & Wyns C. (2019). Male fertility preservation in DSD, XXY, pre-gonadotoxic treatments - Update, methods, ethical issues, current outcomes, future directions. Best Pract. Res. Clin. Endocrinol. Metab. , , . PMID: 30718080 DOI.
Kanakis GA & Nieschlag E. (2018). Klinefelter syndrome: more than hypogonadism. Metab. Clin. Exp. , 86, 135-144. PMID: 29382506 DOI.
Los E & Ford GA. (2019). Klinefelter Syndrome. , , . PMID: 29493939
Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P & Skakkebæk A. (2018). Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology. Endocr. Rev. , 39, 389-423. PMID: 29438472 DOI.
Lanfranco F, Kamischke A, Zitzmann M & Nieschlag E. (2004). Klinefelter's syndrome. Lancet , 364, 273-83. PMID: 15262106 DOI.
Articles
Juel Mortensen L, Lorenzen M, Jørgensen N, Andersson AM, Nielsen JE, Petersen LI, Lanske B, Juul A, Hansen JB & Blomberg Jensen M. (2019). Possible link between FSH and RANKL release from adipocytes in men with impaired gonadal function including Klinefelter syndrome. Bone , 123, 103-114. PMID: 30914274 DOI.
Foland-Ross LC, Ross JL & Reiss AL. (2019). Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. Psychoneuroendocrinology , 100, 223-228. PMID: 30388596 DOI.
Sakurai T, Iizuka K, Kato T & Takeda J. (2019). Type 1 Diabetes Mellitus and Klinefelter Syndrome. Intern. Med. , 58, 259-262. PMID: 30146555 DOI.
GRIGNON CE & GRIGNON J. (1947). [Not Available]. Union Med Can , 76, 1254. PMID: 18899536
SUSMAN E. (1947). Reifenstein-Klinefelter-Albright syndrome. Med. J. Aust. , 2, 155. PMID: 20344569
BETTINGER HF & ROBINSON B. (1946). The Klinefelter-Reifenstein-Albright syndrome. Med. J. Aust. , 2, 446-9. PMID: 21002506
Search PubMed
Search Pubmed: Klinefelter syndrome
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Cite this page: Hill, M.A. (2024, March 29) Embryology Klinefelter syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Klinefelter_syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G