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Judith L. Ross - One of the best experts on this subject based on the ideXlab platform.

  • Minipuberty in Klinefelter Syndrome: Current status and future directions.
    American journal of medical genetics. Part C Seminars in medical genetics, 2020
    Co-Authors: Lise Aksglaede, Judith L. Ross, Shanlee M. Davis, Anders Juul
    Abstract:

    Klinefelter Syndrome is highly underdiagnosed and diagnosis is often delayed. With the introduction of non-invasive prenatal screening, the diagnostic pattern will require an updated description of the clinical and biochemical presentation of infants with Klinefelter Syndrome. In the first months of life, the hypothalamic-pituitary-gonadal (HPG)-axis is transiently activated in healthy males during the so-called minipuberty. This period represents a "window of opportunity" for evaluation of the HPG-axis before puberty and without stimulation tests. Infants with Klinefelter Syndrome present with a hormonal surge during the minipuberty. However, only a limited number of studies exist, and the results are contradictory. Further studies are needed to clarify whether infants with Klinefelter Syndrome present with impaired testosterone production during the minipuberty. The aim of this review is to describe the clinical and biochemical characteristics of the neonate and infant with Klinefelter Syndrome with special focus on the minipuberty and to update the clinical recommendations for Klinefelter Syndrome during infancy.

  • androgen treatment effects on motor function cognition and behavior in boys with Klinefelter Syndrome
    The Journal of Pediatrics, 2017
    Co-Authors: Judith L. Ross, Karen Kowal, Shanlee M. Davis, Martha Bardsley, Harvey Kushner, Allan L Reiss, Nicole Tartaglia
    Abstract:

    Objectives To examine the effects of early low-dose androgen on motor, cognitive, and behavioral function in prepubertal boys with Klinefelter Syndrome (47,XXY). Study design Double-blind trial of 84 boys, ages 4-12 years, randomized to oxandrolone (Ox; 0.06 mg/kg daily; n = 43) or placebo (Pl; n = 41) for 24 months. Standardized assessments were performed at baseline and every 12 months for 24 months evaluating motor, cognitive, and behavioral function. Results The 24-month outcomes were better in the Ox vs. Pl group on 1 of 5 primary endpoints (motor function/strength): Bruininks Visual-Motor scale (P = .005), without significant differences between the 2 groups for the other 4 components. Secondary analyses suggested improvement in the Ox vs. Pl group in the anxiety/depression (P = .03) and social problems (P = .01) scales on the Child Behavior Checklist, anxiety (P = .04) on the Piers Harris Self Concept Scale, and interpersonal problems (P = .02) on the Children's Depression Inventory, without significant differences in hyperactive or aggressive behaviors. Conclusions This double-blind, randomized trial demonstrates that 24 months of childhood low-dose androgen treatment in boys with Klinefelter Syndrome benefited 1 of 5 primary endpoints (visual-motor function). Secondary analyses demonstrated positive effects of androgen on aspects of psychosocial function (anxiety, depression, social problems), without significant effects on cognitive function, or hyperactive or aggressive behaviors. Trial registration ClinicalTrials.gov : NCT00348946 .

  • autism spectrum disorder in males with sex chromosome aneuploidy xxy Klinefelter Syndrome xyy and xxyy
    Journal of Developmental and Behavioral Pediatrics, 2017
    Co-Authors: Nicole Tartaglia, Shanlee M. Davis, Rebecca Wilson, Judith Miller, Jessica Rafalko, Lisa Cordeiro, David R Hessl, Judith L. Ross
    Abstract:

    ABSTRACT:Objective:Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter Syndrome, XYY, XXYY) include symptoms seen in autism spectrum disorder (ASD), such as language impairments and social difficulties. We aimed to: (1) evaluate ASD characteristics in research

  • testis development and fertility potential in boys with Klinefelter Syndrome
    Endocrinology and Metabolism Clinics of North America, 2015
    Co-Authors: Shanlee M. Davis, Alan D Rogol, Judith L. Ross
    Abstract:

    Klinefelter Syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with KS throughout the lifespan have allowed the better characterization of the variable phenotype of this condition. This review provides an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypogonadism and fertility in boys and men with KS.

  • Insulin resistance and metabolic Syndrome in prepubertal boys with Klinefelter Syndrome.
    Acta paediatrica (Oslo Norway : 1992), 2011
    Co-Authors: Martha Bardsley, Karen Kowal, Bonita Falkner, Judith L. Ross
    Abstract:

    Aims: To investigate risk factors for metabolic Syndrome in prepubertal boys with Klinefelter Syndrome. Methods: Eighty-nine boys with Klinefelter Syndrome, ages 4―12.9 years, and 34 age-matched control boys had height, weight, waist circumference and blood pressure measured and their parents completed a questionnaire about physical activity. The boys with Klinefelter Syndrome also had measurement of lipids, fasting glucose and insulin. Insulin-glucose homeostasis model assessment was calculated, and the boys were evaluated for childhood metabolic Syndrome. Results: The Klinefelter Syndrome and control groups were similar ages (7.5 ± 2.4 vs. 8.1 ± 2.3 years). Body mass index measurements were similar, but waist circumference was >90 percentile in 30% of boys with Klinefelter Syndrome versus 21 % of controls. The mean daily time spent running was 42 min less in the Klinefelter Syndrome versus control groups (p < 0.01 ). About 37% of the boys with Klinefelter Syndrome had elevated LDL cholesterol, 24% had insulin resistance, and 7% met the three criteria for diagnosis of metabolic Syndrome. Conclusions: Truncal obesity, insulin resistance and metabolic Syndrome are present in boys as young as 4―12 years with Klinefelter Syndrome, and these occur in association with reduced running-type activity.

Eberhard Nieschlag - One of the best experts on this subject based on the ideXlab platform.

  • Klinefelter Syndrome more than hypogonadism
    Metabolism-clinical and Experimental, 2018
    Co-Authors: George Kanakis, Eberhard Nieschlag
    Abstract:

    Klinefelter Syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and more than 70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing. KS patients present a series of comorbidities that increase morbidity and mortality by 40%. Such disturbances are the impaired metabolic profile (obesity, dyslipidemia, insulin resistance) and a tendency to thrombosis, which all favor cardiovascular disease. They also present susceptibility for specific neoplasias (breast cancer, extragonadal germ cell tumors), autoimmune diseases as well as osteoporosis and bone fractures. Moreover, KS has been associated with verbal processing and attention deficits as well as social skill impairments, leading KS individuals to academic and professional achievements inferior to those of their peers of comparable socio-economic status. Nevertheless, the majority fall within the average range regarding their intellectual abilities and adaptive functioning. Testosterone replacement therapy (TRT) is the mainstay of treatment in hypogonadal KS patients; however, randomized trials are needed to determine optimal therapeutic regimens and follow-up schedules.

  • Klinefelter Syndrome: the commonest form of hypogonadism, but often overlooked or untreated.
    Deutsches Arzteblatt international, 2013
    Co-Authors: Eberhard Nieschlag
    Abstract:

    Klinefelter Syndrome 47,XXY was first described 70 years ago (1). With an incidence of 0.1% to 0.2% of male neonates (i.e. 1 to 2 per 1000), it is one of the commonest congenital chromosome disorders resulting in hypogonadism and genetically-determined infertility (2, 3). Klinefelter Syndrome is associated with a significantly higher morbidity rate compared to the male population as a whole. The main associated disorders are varicose veins, thrombosis, embolism, type 2 diabetes, bone fractures, epilepsy, and other neurological and mental disorders (4– 6) (Table 1). This leads to a life expectancy 11.5 years below that of the male population as a whole (6). Table 1 Comorbidities in Klinefelter Syndrome: prevalence and mortality As a result of this increased morbidity, Klinefelter Syndrome patients require doctor and hospital treatment disproportionately often. However, a survey completed by 290 practising primary care physicians, internal medicine specialists, and urologists showed that two-thirds of primary care physicians and internal medicine specialists had had not knowingly seen any cases of Klinefelter Syndrome in recent years, although their theoretical knowledge of it was good; urologists fared a little better regarding diagnosis of Klinefelter Syndrome (7). On the basis of patient registries in Denmark, it is suspected that only 25% of all Klinefelter Syndrome patients are diagnosed during their lifetimes (8). Nevertheless, suspected Klinefelter Syndrome is easy to diagnose if physicians know the Syndrome and thorough clinical examination is performed. Because knowledge of Klinefelter Syndrome can only be derived from diagnosed cases, it is not known whether other cases remain undetected because they have a different range of symptoms. Furthermore, the known symptoms are not exclusive: Only one-quarter of patients in whom Klinefelter Syndrome was suspected following clinical examination in a specialized facility actually showed a corresponding karyotype (9). This article aims to attract greater medical attention to this important Syndrome, in order to provide more patients with appropriate treatment. It is based on a selective search of the literature using a regular PubMed search over a 40-year period of clinical and scientific consideration of Klinefelter Syndrome.

  • clinical and diagnostic features of patients with suspected Klinefelter Syndrome
    Journal of Andrology, 2003
    Co-Authors: Axel Kamischke, Arthur Baumgardt, Jurgen Horst, Eberhard Nieschlag
    Abstract:

    Klinefelter Syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the Syndrome is often overlooked. To prevent such oversights, the clinical features should be better characterized, and simple screening tests should be used more frequently. In a cohort of 309 patients suspected of having Klinefelter Syndrome, we evaluated the clinical symptoms as well as the diagnostic value of the Barr body test for screening procedures. On the basis of chromosome analysis, 85 patients (group I) were diagnosed as having Klinefelter Syndrome, and 224 patients had a 46,XY karyotype (group II). Barr body analysis revealed a specificity of 95% and a sensitivity of 82% for the diagnosis of Klinefelter Syndrome. General features (eg, reason for admission, age, age of the parents, body weight, and frequency of maldescended testes) were not different between the groups, except that group I had a higher proportion of patients with a lower educational background. Compared to group II, patients with Klinefelter Syndrome were taller (P <.001); had smaller testis volumes (P <.0001), higher follicle-stimulating hormone (FSH) and luteinizing hormone (LH) values; and carried a tendency for less androgenic phenotype and secondary hair distribution. Testosterone, estradiol, sex hormone-binding globulin (SHBG), and prostate-specific antigen (PSA) serum levels as well as prostate volume were not significantly different between the groups. In patients who provided an ejaculate, azoospermia was found in 54% of the patients in group II and in 93% of the patients with Klinefelter Syndrome. Although not exclusively characteristic for Klinefelter Syndrome, the combination of low testicular volume and azoospermia, together with elevated gonadotropins, is highly indicative for a Klinefelter Syndrome and should stimulate further clinical investigations. Barr body analysis provides a quick and reliable screening test, which, however, must be confirmed by karyotyping.

  • Clinical and diagnostic features of patients with suspected Klinefelter Syndrome.
    Journal of andrology, 2003
    Co-Authors: Axel Kamischke, Arthur Baumgardt, Jurgen Horst, Eberhard Nieschlag
    Abstract:

    Klinefelter Syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the Syndrome is often overlooked. To prevent such oversights, the clinical features should be better characterized, and simple screening tests should be used more frequently. In a cohort of 309 patients suspected of having Klinefelter Syndrome, we evaluated the clinical symptoms as well as the diagnostic value of the Barr body test for screening procedures. On the basis of chromosome analysis, 85 patients (group I) were diagnosed as having Klinefelter Syndrome, and 224 patients had a 46,XY karyotype (group II). Barr body analysis revealed a specificity of 95% and a sensitivity of 82% for the diagnosis of Klinefelter Syndrome. General features (eg, reason for admission, age, age of the parents, body weight, and frequency of maldescended testes) were not different between the groups, except that group I had a higher proportion of patients with a lower educational background. Compared to group II, patients with Klinefelter Syndrome were taller (P

Andrea Lenzi - One of the best experts on this subject based on the ideXlab platform.

  • Klinefelter Syndrome, insulin resistance, metabolic Syndrome, and diabetes: review of literature and clinical perspectives
    Endocrine, 2018
    Co-Authors: Andrea Salzano, D. Pasquali, Roberta D’assante, Liam M. Heaney, Federica Monaco, Giuseppe Rengo, Pietro Valente, Eduardo Bossone, Daniele Gianfrilli, Andrea Lenzi
    Abstract:

    Purpose Klinefelter Syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic Syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. Methods We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter Syndrome" AND "insulin resistance" OR "metabolic Syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Results Insulin resistance, metabolic Syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Conclusion Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  • Klinefelter Syndrome insulin resistance metabolic Syndrome and diabetes review of literature and clinical perspectives
    Endocrine, 2018
    Co-Authors: Andrea Salzano, D. Pasquali, Liam M. Heaney, Federica Monaco, Giuseppe Rengo, Pietro Valente, Eduardo Bossone, Daniele Gianfrilli, Roberta Dassante, Andrea Lenzi
    Abstract:

    Klinefelter Syndrome (KS), the most frequent chromosomic abnormality in males, is associated with hypergonadotropic hypogonadism and an increased risk of cardiovascular diseases (CVD). The mechanisms involved in increasing risk of cardiovascular morbidity and mortality are not completely understood. This review summarises the current understandings of the complex relationship between KS, metabolic Syndrome and cardiovascular risk in order to plan future studies and improve current strategies to reduce mortality in this high-risk population. We searched PubMed, Web of Science, and Scopus for manuscripts published prior to November 2017 using key words "Klinefelter Syndrome" AND "insulin resistance" OR "metabolic Syndrome" OR "diabetes mellitus" OR "cardiovascular disease" OR "testosterone". Manuscripts were collated, studied and carried forward for discussion where appropriate. Insulin resistance, metabolic Syndrome, and type 2 diabetes are more frequently diagnosed in KS than in the general population; however, the contribution of hypogonadism to metabolic derangement is highly controversial. Whether this dangerous combination of risk factors fully explains the CVD burden of KS patients remains unclear. In addition, testosterone replacement therapy only exerts a marginal action on the CVD system. Since fat accumulation and distribution seem to play a relevant role in triggering metabolic abnormalities, an early diagnosis and a tailored intervention strategy with drugs aimed at targeting excessive visceral fat deposition appear necessary in patients with KS.

  • A combined form of hypothyroidism in pubertal patients with non-mosaic Klinefelter Syndrome
    Endocrine, 2016
    Co-Authors: N. Tahani, G. Ruga, S. Granato, M. Spaziani, Francesca Panimolle, A. Anzuini, Andrea Lenzi, Antonio F. Radicioni
    Abstract:

    Klinefelter Syndrome has been associated with thyroid abnormalities, the genesis of which is not yet fully clear. The aim of this study was to evaluate thyroid function in Klinefelter Syndrome subjects during the pubertal period. Chemiluminescent microparticle immunoassay was used to analyze Thyroid-Stimulating Hormone, fT3 and fT4 concentration in serum samples from 40 Klinefelter Syndrome pubertal boys with classic 47,XXY karyotype and 157 healthy age-matched controls. 13 Klinefelter Syndrome patients also underwent Thyrotropin-Releasing Hormone testing to evaluate hypothalamic-pituitary function. fT3 levels were significantly lower in Klinefelter Syndrome patients than in age-matched controls (p 

  • bone mass in subjects with Klinefelter Syndrome role of testosterone levels and androgen receptor gene cag polymorphism
    The Journal of Clinical Endocrinology and Metabolism, 2011
    Co-Authors: Alberto Ferlin, Andrea Lenzi, Mirko Schipilliti, Cinzia Vinanzi, Andrea Garolla, Antonella Di Mambro, Riccardo Selice, Carlo Foresta
    Abstract:

    In patients with Klinefelter Syndrome a high prevalence of low bone mass was observed but this had no relation with testosterone levels or androgen receptor sensitivity.

Peter N Schlegel - One of the best experts on this subject based on the ideXlab platform.

  • successful testicular sperm retrieval in adolescents with Klinefelter Syndrome treated with at least 1 year of topical testosterone and aromatase inhibitor
    Fertility and Sterility, 2013
    Co-Authors: Akanksha Mehta, Alexander Bolyakov, Peter N Schlegel, Jordan Roosma, Darius A Paduch
    Abstract:

    Objective To evaluate surgical sperm retrieval rates in adolescents with Klinefelter Syndrome and testosterone replacement therapy (TRT). Design Case series. Setting Academic medical center. Patient(s) Ten patients with Klinefelter Syndrome, aged 14–22 years, treated with testosterone replacement and aromatase inhibitor therapy for a period of 1–5 years before surgical sperm retrieval. Intervention(s) Microsurgical testis sperm extraction with cryopreservation of harvested tissue. Main Outcome Measure(s) Presence of spermatozoa within testis tissue. Result(s) Successful sperm retrieval in 7/10 patients (70%). Conclusion(s) Use of topical TRT did not appear to suppress spermatogenesis in adolescents with KS. It is uncertain whether sperm retrieval rates would be higher or lower without testosterone replacement in these young males. Sperm cryopreservation should be discussed in all KS adolescents who are either receiving or considering initiating TRT.

  • success of testicular sperm injection and intracytoplasmic sperm injection in men with Klinefelter Syndrome
    The Journal of Clinical Endocrinology and Metabolism, 2005
    Co-Authors: Jonathan D Schiff, Gianpiero D Palermo, Lucinda L Veeck, Marc Goldstein, Zev Rosenwaks, Peter N Schlegel
    Abstract:

    Purpose: The aim of this study was to report the successful fertility treatment of men with Klinefelter Syndrome using testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI). Methods: A total of 42 men with Klinefelter Syndrome who underwent 54 TESE procedures were identified. Before TESE, patients with serum testosterone levels less than 15.6 nmol/liter were treated with an aromatase inhibitor. Sperm retrieval rates and results of ICSI, including fertilization and clinical pregnancy, were collected. Results: Mean pretreatment FSH and testosterone levels were 33.2 IU/liter and 9.8 nmol/liter. During medical therapy, the mean testosterone level rose to 17.0 nmol/liter (P < 0.01). Spermatozoa were found during 39 microdissection TESE procedures, on the day before, or day of oocyte retrieval during a programmed in vitro fertilization cycle. The sperm retrieval rate was 72% (39 of 54) per TESE attempt, and 29 of the 42 different men (69%) had adequate sperm found for ICSI. Thirty-three...

Ronald S Swerdloff - One of the best experts on this subject based on the ideXlab platform.

  • xxy mice exhibit gonadal and behavioral phenotypes similar to Klinefelter Syndrome
    Endocrinology, 2005
    Co-Authors: Yanhe Lue, David J Jentsch, Christina Wang, Nagesh P Rao, Amiya Sinha P Hikim, Wael Salameh, Ronald S Swerdloff
    Abstract:

    Klinefelter Syndrome (XXY males) is the most common sex chromosome aneuploidy. XXY mice were generated by using a four-generation breeding scheme that involves the use of a structurally rearranged Y chromosome, Y*, yielding approximately 50% of the live-born male offspring in the fourth generation with a XXY karyotype. Adult XXY mice have small testes, decreased plasma T levels, and elevated plasma FSH levels. The testes of adult XXY mice contained small seminiferous tubules with intraepithelial vacuolization and absence of germ cells, whereas Leydig cells appeared to be more abundant than their XY littermates. Androgen receptor immunoexpression was localized in Leydig cells and peritubular myoid cells in both XY and XXY mice. Androgen receptor immunoexpression was abundant in the Sertoli cells of XY mice but nearly absent in those of XXY mice. The testicular phenotype was marked by a 23.1% decrease in testis weights in XXY pups beginning at d 7 after birth. Gonocyte numbers were similar in XY and XXY mice at d 1 of age, followed by a 62.6% decrease in the number of gonocytes in the XXY mice on d 3 and further progressive loss in spermatogonia by d 5 and 7. On d 10, only a few spermatogonia remained in the XXY mice. To determine whether the phenotype of XXY mice extended into the neurobehavioral domain, studies were conducted demonstrating impairment of learning and memory function in XXY mice. We conclude that adult XXY mice have testicular failure and learning deficits, similar to its human counterpart, Klinefelter Syndrome.

  • Klinefelter Syndrome expanding the phenotype and identifying new research directions
    Genetics in Medicine, 2003
    Co-Authors: Joe Leigh Simpson, Ronald S Swerdloff, Felix De La Cruz, Carole A Samangosprouse, Niels E Skakkebaek, John M Graham, Terry J Hassold, Melissa Aylstock, Heino F L Meyerbahlburg, Huntington F Willard
    Abstract:

    Purpose The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter Syndrome in order to derive research priorities. Methods This study was conducted using critical reviews of selective topics, emphasizing less well-recognized clinical findings. Results And Conclusions The phenotype of the prototypic 47,XXY case is well recognized: seminiferous tubule dysgenesis and androgen deficiency. Less well appreciated is the varied expressivity of 47,XXY Klinefelter Syndrome, in particular neurological/cognitive perturbations like language and behavioral problems. Effective therapies are available. Reproductive technologies allow 47,XXY men to sire offspring through intracytoplasmic sperm injection (ICSI); however, genetic counseling is complex and success is low. Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Early treatment may be imperative for optimal outcome.

  • working memory and relational reasoning in Klinefelter Syndrome
    Journal of The International Neuropsychological Society, 2003
    Co-Authors: Christina L. Fales, Keith J Holyoak, Ronald S Swerdloff, Daniel H Geschwind, Barbara J Knowlton, Irene Gaw T Gonzalo
    Abstract:

    Klinefelter Syndrome (KS) is a sex chromosome abnormality associated with male infertility and mild cognitive deficits. Individuals with KS have been reported to have impaired verbal ability, as well as deficits in executive function. To further understand the nature of their deficits, we assessed specific elements of frontal lobe function such as working memory and relational reasoning. Men with KS exhibited a deficit in a transitive inference task in which participants ordered a set of names based on a list of propositions about the relative heights of the people named. This deficit was present even for items in which the propositions were given in order, so a chaining strategy could be used. Men with KS are also impaired on the n -back task, which uses letters as stimuli. In contrast, these men performed as well as controls in nonverbal reasoning (Raven's Progressive Matrices). These results suggest that men with KS have intact nonverbal reasoning abilities, but that a difficulty in encoding verbal information into working memory may underlie their executive and linguistic impairments. ( JINS , 2003, 9 , 839–846.)

  • neuropsychological profiles of adults with Klinefelter Syndrome
    Journal of The International Neuropsychological Society, 2001
    Co-Authors: Kyle Brauer Boone, Irene Gaw T Gonzalo, Ronald S Swerdloff, Daniel H Geschwind, Bruce L Miller, Jill Razani, Alison Lee, Anna Haddal, Katherine P Rankin, Lynn K Paul
    Abstract:

    Children and adolescents with Klinefelter Syndrome (XXY) have been reported to show deficits in language processing including VIQ , PIQ and a learning disability in reading and spelling. However, whether this is characteristic of adults with Klinefelter Syndrome has not been established. Thirty-five men with Klinefelter Syndrome, aged 16 to 61, and 22 controls were evaluated with a comprehensive neuropsychological battery. The Klinefelter patients scored significantly below controls in language skills, verbal processing speed, verbal and nonverbal executive abilities, and motor dexterity. Within the Klinefelter sample, three cognitive subgroups were identified: VIQ 7 or more points below PIQ (n 5 10), VIQ within 6 points of PIQ (n 5 12), and PIQ 7 or more points below VIQ (n 5 12). The deficits detected in language, verbal processing speed, and verbal executive skills were found to be isolated to the VIQ , PIQ subgroup, while the abnormalities in motor dexterity and nonverbal executive skills were confined to the PIQ , VIQ subgroup. Older age was significantly correlated with increases in VIQ relative to PIQ in the patient group, which suggests the intriguing possibility that the PIQ , VIQ subgroup primarily emerges in young adulthood, perhaps in response to the reported hormonal abnormalities detected in Klinefelter Syndrome patients during puberty. ( JINS, 2001, 7, 446‐ 456)