Incidence of Klinefelter’s Syndrome

Perwein, E

doi:10.1007/978-3-642-69644-2_2

Cited by 13 publications

(8 citation statements)

References 17 publications

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“…Thus, we would have had to expect the occurrence of approximately 1000 cases of sexual precocity in boys. The frequency of Klinefelter syndrome is 1 in 500 boys [13]. Based alone on the published cases, the association of sexual precocity and XXY karyotype was clearly increased (11 instead of the expected 2); and there may have been further, unpublished observations.…”

Section: Discussionmentioning

confidence: 82%

Sexual precocity in klinefelter syndrome: report on two new cases with idiopathic central precocious puberty

Mühlendahl

Heinrich

1994

Eur J Pediatr

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Section: Discussionmentioning

confidence: 82%

Sexual precocity in klinefelter syndrome: report on two new cases with idiopathic central precocious puberty

Mühlendahl

Heinrich

1994

Eur J Pediatr

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“…47, XXY, also known as Klinefelter syndrome (KS), is the most common X and Y chromosomal variation, estimated to occur in 1 in 650 male births, and is characterized by hypogonadism, tall stature, gynecomastia, and eunuchoidism [Klinefelter Jr et al, ; Maclean et al, ; Perwein, ; Nielsen and Wohlert, ; Bojesen et al, ; Aksglaede et al, ; Verri et al, 2010]. Neurodevelopmental delays and cognitive deficits, although varying in severity, are common in children with 47, XXY and include language‐ based learning difficulties, executive dysfunction, and speech delay [Graham et al, ; Ratcliffe, ; Samango‐Sprouse and Rogol, 2002; Simpson et al, ; Kompus et al, ; Verri et al, 2010; Gropman & Samango‐Sprouse, 2013].…”

Section: Introductionmentioning

confidence: 99%

Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

Samango‐Sprouse¹,

Stapleton²,

Lawson³

et al. 2015

American J of Med Genetics Pt C

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47, XXY occurs in up to 1 in 650 male births and is associated with androgen deficiency, neurodevelopmental delays, and atypical social-behaviors. Previously, we showed that young boys with 47, XXY who received early hormonal therapy (EHT) had significantly improved neurodevelopment. The objective of this follow-up study was to examine the effects of EHT on social behavior in boys with 47, XXY. The study consisted of boys prenatally diagnosed with 47, XXY who were referred for evaluations. Twenty-nine boys received three injections of 25 mg testosterone enanthate and 57 controls did not receive EHT. Behavioral functioning was assessed using the Behavior Rating Inventory of Executive Function, Social Responsiveness Scale, 2nd Ed., and the Child Behavior Checklist for Ages 6-18. The hypothesis that EHT may affect behavior was formulated prior to data collection. Questionnaire data was prospectively obtained and analyzed to test for significance between two groups. Significant differences were identified between group's scores over time in Social Communication (P=0.007), Social Cognition (P=0.006), and Total T-score (P=0.001) on the SRS-2; Initiation (P=0.05) on the BRIEF; and Externalizing Problems (P=0.024), Affective Problems (P=0.05), and Aggressive Behaviors (P=0.031) on the CBCL. This is the third study revealing positive effects of EHT on boys with XXY. There was a significant improvements associated with the 47, XXY genotype in boys who received EHT. Research is underway on the neurobiological mechanisms, and later developmental effects of EHT.

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“…In the human, XXY (Klinefelter syndrome) and XX males are relatively frequent, occurring in approximately 1 in 1000 and 1 in 20,000 males, respectively (de la Chapelle, 1981;Perwein, 1984). Both XX and XXY males develop testes and have a normal male phenotype but are sterile with small, azoospermic testes.…”

Section: Introductionmentioning

confidence: 99%

Germ cell loss in the XXY male mouse: Altered X-chromosome dosage affects prenatal development

et al. 1998

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Male mammals with two X chromosomes are sterile due to the demise of virtually all germ cells; however, the underlying reasons for the germ cell loss remain unclear. The use of a breeding scheme for the production of XXY male mice has allowed us to experimentally address the question of when and why germ cells die in the XXY testis and whether the defect is due to the presence of an additional X chromosome in the soma, the germ cells themselves, or both. Our studies demonstrate that altered X‐chromosome dosage acts to impair germ cell development in the testis at a much earlier stage than suggested by previous studies of XX sex‐reversed males or XX/XY chimeras. Specifically, we noted significantly reduced germ cell numbers in the XXY testis during the period of germ cell proliferation in the early stages of testis differentiation. Although the somatic development of the XXY testis is morphologically and temporally normal, our studies indicate that germ cell demise reflects a defect in somatic/germ cell communication, since, in an in vitro system, the proliferative potential of fetal germ cells from XXY males is indistinguishable from that of normal males. Mol. Reprod. Dev. 49:101–111, 1998. © 1998 Wiley‐Liss, Inc.

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Incidence of Klinefelter’s Syndrome

Cited by 13 publications

References 17 publications

Sexual precocity in klinefelter syndrome: report on two new cases with idiopathic central precocious puberty

Sexual precocity in klinefelter syndrome: report on two new cases with idiopathic central precocious puberty

Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

Germ cell loss in the XXY male mouse: Altered X-chromosome dosage affects prenatal development

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