Klinefelter and Turner Syndrome

12 Key excerpts on "Klinefelter and Turner Syndrome"

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  Genetic Disorders and the Fetus

  Diagnosis, Prevention and Treatment

  • Aubrey Milunsky, Jeff M. Milunsky(Authors)
  • 2021(Publication Date)
  • Wiley-Blackwell

    (Publisher)

  PLoS One 2018;13:e0206932. 198. Giagulli VA, Campone B, Castellana M, et al. Neu- ropsychiatric aspects in men with Klinefelter syn- drome. Endocr Metab Immune Disord Drug Targets 2019;19:109. 199. de Vries ALC, Roehle R, Marshall L, et al. Mental health of a large group of adults with disorders of sex devel- opment in six European countries. Psychosom Med 2019;81:629. 200. van Rijn S, Swaab H. Emotion regulation in adults with Klinefelter syndrome (47,XXY): neurocognitive underpinnings and associations with mental health problems. J Clin Psychol 2020;76:228. 201. Giedd JN, Clasen LS, Wallace GL, et al. XXY (Kline- felter syndrome): a pediatric quantitative brain mag- netic resonance imaging case-control study. Pediatrics 2007;119:e232. 202. Skakkebæk A, Gravholt CH, Rasmussen PM, et al. Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile. Neuroimage Clin 2013;4:1. 203. Savic I. Advances in research on the neurological and neuropsychiatric phenotype of Klinefelter syndrome. Curr Opin Neurol 2012;25:138. 204. van Rijn S, Swaab H, Baas D, et al. Neural sys- tems for social cognition in Klinefelter syndrome (47,XXY): evidence from fMRI. Soc Cogn Affect Neu- rosci 2012;7:689. 205. Foland-Ross LC, Ross JL, Reiss AL. Androgen treat- ment effects on hippocampus structure in boys with Klinefelter syndrome. Psychoneuroendocrinol- ogy 2019;100:223. 206. Tran SL, Samango-Sprouse CA, Sadeghin T, et al. Hor- monal replacement therapy and its potential influ- ence on working memory and competency/adaptive CHAPTER 12 Prenatal Diagnosis of Sex Chromosome Abnormalities 535 functioning in 47,XXY (Klinefelter syndrome). Am J Med Genet A 2019;179:2374. 207. Porter ME, Gardner HA, DeFeudis P, et al. Verbal deficits in Klinefelter (XXY) adults living in the com- munity. Clin Genet 1998;33:246. 208. Vignozzi L, Corona G, Forti G, et al. Clinical and ther- apeutic aspects of Klinefelter’s syndrome: sexual func- tion.

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  Neuroendocrine Disorders in Children

  • Mehul Dattani, Peter Hindmarsh, Lucinda Carr, Iain C A F Robinson(Authors)
  • 2016(Publication Date)
  • Mac Keith Press

    (Publisher)

  T URNER SYNDROME Turner syndrome occurs when the second X chromosome, or part of the chromosome, is missing (Bender et al. 1989; Ross and Zinn 1999). The syndrome involves a range of physi-cal problems, including short stature and primary gonadal failure in the vast majority of patients (Lippe 1991). Most individuals with Turner syndrome have impaired production of ovarian hormones, including androgens and oestrogens, beginning early in life (Singh and Carr 1966; Conte et al. 1975), although the degree of impairment varies somewhat across individuals (Rosenfield 1990; Saenger 1996). Girls and women with Turner syndrome have normal verbal abilities, but show a well-documented reduction in spatial abilities (Money and Alexander 1966; Waber 1979; Rovet and Netley 1982; Downey et al. 1991; Kesler et al. 2004), perhaps representing decreased male-typical cognitive function, given that males tend to outperform females on many measures of spatial ability. There is also evidence of reduced social cognition in individuals with Turner syndrome (Downey et al. 1989; Skuse et al. 1997; Lawrence et al. 2003), an effect that represents decreased female-typical behaviour, given that girls and women perform better, on average, on measures of social cognition than do boys and men. One Neuroendocrine Disorders 352 study suggests that girls with Turner syndrome show reduced performance on cognitive measures on which females typically excel (e.g. verbal fluency), as well as on those at which males excel (e.g. mental rotations), and that they show reduced male-typical as well as female-typical behaviour in other areas as well, including on measures of masculine and feminine personality traits and childhood activities (Collaer et al. 2002).

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  Intersex

  • Catherine Harper(Author)
  • 2020(Publication Date)
  • Routledge

    (Publisher)

  genetic sex. It is apparent that a number of signifiers of sex are in operation, and they are either in tandem (usually), out of alignment or in some way ‘atypical’. Clearly, genetic sex is not always exclusively binary, and there are sex chromosome anomalies that effectively challenge normative configurations of male and female karyotypes.

  In XXY karyotype and its variants, infants generally look like XY infants (that is, they have male-pattern genitalia, which may be small, and testes may on occasion be undescended). These infants are named and raised as boys whether their chromosomal composition has been diagnosed or not (and in childhood it is generally the learning and behavioural issues associated with the karyotype which leads to pre-puberty diagnosis). Adults with Klinefelter’s Syndrome variously exhibit all, some or none of the following physical characteristics: enlarged breasts with pear-shaped body, low muscle mass, low levels of testosterone secretion, sparse facial and body hair, male-patterned genitalia, small testes. Most of these individuals begin testosterone therapy on diagnosis and have their breasts – if these develop – surgically removed. The vast majority of them, almost universally, are unable to produce sufficient or healthy sperm, and are infertile. Most adults with XXY or variant/mosaic karyotypes and/or Klinefelter’s Syndrome identify as male, and live in the world contentedly and assuredly as men. However, there are individuals with XXY karyotypes who do not have a male phenotype; who do not have internal male reproductive organs; and/or who do not identify themselves as essentially male.

  Sex chromosome variations present difficult issues for parents bringing up children. Little boys are often expected, even subconsciously, to be ‘little men’: active, confident, sporty and increasingly independent. Moreover, little boys (as potential ‘little men’) can receive societal signals that thinness or tendency to fat, coupled with poor strength or lack of sportiness are less than masculine. Parents have embedded expectations of their children, which may be fundamentally shaken by a sex chromosome variation diagnosis.

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  Genetic Disorders Sourcebook, 7th Ed.

  • Angela L. Williams(Author)
  • 2019(Publication Date)
  • Omnigraphics

    (Publisher)

  Females have two X chromosomes (XX) in most of their cells, and males have one X chromosome and one Y chromosome (XY) in most of their cells. A female with all of her chromosomes is referred to as “46, XX.” A male is “46, XY.” Turner syndrome most often occurs when a female has one normal X chromosome, but the other X chromosome is missing (45, X). Other forms of Turner syndrome result when one of the two chromosomes is partially missing or altered in some way � What Are Common Symptoms? Turner syndrome causes a variety of symptoms in girls and women. For some people, symptoms are mild, but for others, Turner syndrome can cause serious health problems. In general, women with Turner syndrome have female sex characteristics, but these characteristics This chapter includes text excerpted from Turner Syndrome: Condition Infor-mation,” Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), December 1, 2016. 510 Genetic Disorders Sourcebook, Seventh Edition are underdeveloped compared to the typical female. Turner syndrome can affect: Appearance� Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands, and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature� Girls with Turner syndrome grow more slowly than other children. Without treatment, they tend to have short stature (around 4 feet, 8 inches) as adults. Puberty� Most girls with Turner syndrome do not start puberty naturally. Reproduction� In most girls with Turner syndrome, the ovaries are missing or do not function properly. Without the estrogen (ER) made by their ovaries, girls with Turner syndrome will not develop breasts. Most women with Turner syndrome cannot become pregnant without assistive technology. Cardiovascular� Turner syndrome can cause problems with the heart or major blood vessels.

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  Altchek's Diagnosis and Management of Ovarian Disorders

  • Liane Deligdisch, Nathan G. Kase, Carmel J. Cohen(Authors)
  • 2013(Publication Date)
  • Cambridge University Press

    (Publisher)

  Chapter Gonadal dysgenesis: ovarian function and reproductive health in Turner syndrome 3 Paul Saenger, MD, and David Rodriguez-Buritica, MD Turner syndrome (TS) affects approximately one in 2500 live- born females [1]. This disorder presents the clinician with a challenging array of genetic, developmental, endocrine, cardi- ovascular, psychosocial, and reproductive issues. For the pur- pose of this chapter, Turner syndrome will be used to describe the patient with an abnormality of the chromosomal karyotype involving loss of part or all of the X chromosome associated with phenotypic abnormalities that include short stature and the potential for or the presence of ovarian failure. Definition The diagnosis of TS requires the presence of characteristic physical features in phenotypic females coupled with complete or partial absence of the second sex chromosome, with or without cell line mosaicism [2–4]. Individuals with a 45,X cell population but without clinical features are not considered to have TS. Phenotypic males are also excluded from the diagnosis of TS, regardless of karyotype. Whether to diagnose individuals with sex chromosome structural abnormalities as having TS requires clinical judgment. Abnormalities such as ring X and Xq isochromosomes are common in patients with classic TS features, and many of these patients have phenotypes indistin- guishable from that of patients with apparently non-mosaic monosomy X (45,X) [4]. Patients with small distal short arm deletions (Xp-) including the SHOX gene frequently have short stature and other TS-associated skeletal anomalies, but most are at low risk of ovarian failure and should generally not be diagnosed with TS if band Xp22.3 is not deleted [5]. Individuals with deletions of the long arm distal to Xq24 fre- quently have primary or secondary amenorrhea without short stature or other TS features [6]; the diagnosis of premature ovarian failure is more appropriate for them.

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  Yen & Jaffe's Reproductive Endocrinology E-Book

  Yen & Jaffe's Reproductive Endocrinology E-Book

  • Antonio R. Gargiulo, Jerome F. Strauss, Robert L. Barbieri, Jerome F. Strauss, Robert L. Barbieri(Authors)
  • 2017(Publication Date)
  • Elsevier

    (Publisher)

  49

  Klinefelter Syndrome

  Klinefelter syndrome is typically associated with hyper gonadotropic hypogonadism and infertility.50 In utero, the XXY fetal testis has the normal complement of primordial germ cells. However, these germ cells degenerate during childhood, possibly due to a defect in Sertoli cells and germ cell communication during testes maturation.51 In theory, the etiology of the nondisjunction in Klinefelter can be from maternal meiosis I or II or paternal meiosis II, and thus each situation should contribute to 33% of cases. However, nearly 50% of Klinefelter patients show a paternal origin,52 with some studies showing increased frequency of diploid XY sperm with advanced paternal age.53

  Presentation and Diagnosis of Klinefelter Syndrome

  Klinefelter syndrome is largely undiagnosed in the general population.54 In early life, Klinefelter may be diagnosed in boys with behavioral disorders, abnormally small testes, and long legs (Fig. 16.7 ). The presence of only long lower extremities distinguishes Klinefelter syndrome from the other forms of eunuchoidism that results in equally long upper and lower extremities. In patients with Klinefelter syndrome, IQ typically falls in the normal range; however, it tends to be below that of other siblings.53 , 55 Most patients present in adolescence with small firm testes and hypogonadism with varying degrees of androgen deficiency.53 In later life, many males present at infertility centers with azoospermia.

  FIGURE 16.7 Klinefelter syndrome.

  (A) Phenotypic male with XXY. Note the long lower extremities as compared with the upper extremities. (B) Well-virilized patient with gynecomastia. (C) Testicular biopsy of patient in (B). Note marked hyalinization of seminiferous tubules and Leydig cell hyperplasia.

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  Recent Progress in Hormone Research

  Proceedings of the 1967 Laurentian Hormone Conference

  • E. B. Astwood(Author)
  • 2013(Publication Date)
  • Academic Press

    (Publisher)

  2 The format for the references cited in this article has been changed. References are divided into two parts. First, the 218 references that pertain to the literature review for clinical and laboratory features are listed. Second, all other cited references are listed in their usual fashion. 3 Present address: Department of Medicine, The Chicago Medical School, 710 S. Wolcott, Chicago, Illinois. 4 Present address: 313 West Second St., Morehead, Kentucky. 5 Career Scientist of The Health Research Council of the City of New York. 321 322 C. ALVIN PAULSEN ET AL. quently been demonstrated in this condition. Furthermore, additional features have been noted to occur with sufficient frequency to be included in the syndrome. The purpose of this report is to review certain clinical, chromosomal, histologie, and hormonal findings encountered in Klinefelter's syndrome. Particular attention will be paid to the importance of X-chromosomal mosai-cism as a modifying influence in this disorder. II. Clinical Features The fundamental defect responsible for Klinefelter's syndrome is an over-dosage of X-chromosomes. Therefore, any phenotypic male who demonstrates two or more X-chromosomes plus at least one Y-chromosome in all or in part of his body tissues should be included in this syndrome. Functionally, the presence or absence of supernumerary X-chromosomes in the testis deter-mines whether or not seminiferous tubule and Ley dig cell damage occurs. Classically, the salient features of this disorder include (1) small, firm testes, (2) varying degrees of eunuchoidism, (3) azoospermia, (4) gyneco-mastia, (5) mental abnormalities, (6) chroma tin positive buccal smear pat-tern, and (7) elevated urinary gonadotropin titers. The clinical and laboratory features in these patients are present with varying frequencies.

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  Pediatric Endocrinology

  Growth, Adrenal, Sexual, Thyroid, Calcium, and Fluid Balance Disorders

  • Fima Lifshitz(Author)
  • 2006(Publication Date)
  • CRC Press

    (Publisher)

  12 Turner Syndrome E. Kirk Neely and Patricia Y. Fechner Division of Pediatric Endocrinology and Diabetes, Stanford University, Stanford, California, U.S.A. Ron G. Rosenfeld Lucile Packard Foundation for Children’s Health, Palo Alto, California, and Departments of Pediatrics and of Cell and Developmental Biology, Oregon Health and Science University, Portland, Oregon, U.S.A. INTRODUCTION Humans need an intact X chromosome to survive. When all (or part) of the second sex chromosome—the X or the Y chromosome—is absent, a characteristic prenatal and postnatal phenotype results. Of the small percentage that survives to term, affected individuals are phenotypic females with dysgenetic ovaries, short stature, and other typical but highly variable dysmorphic features (Fig. 1). Otto Ullrich first described the syndrome in a case report in the German literature in 1930 and later recog-nized the neonatal presentation with lymphedema (1). University of Oklahoma Professor Henry Turner, whose name is inextricably linked with the syndrome, described seven patients with ‘‘infantilism, congenital webbed neck, and cubitus valgus’’ in 1938 (2). Turner became the first physician to use medical therapies in a patient with Turner syndrome (TS), administering injections of various pituitary extracts and estrogen-containing preparations to several of his patients. Rudimentary ovaries (‘‘streak gonads’’) were identified as the cause of TS’s sexual infantilism in 1944 by Wilkins and Fleishman (3), and the term 45,X gonadal dysgenesis is often used to identify TS (4). Other manifestations of the syndrome were catalogued during this period and collectively termed ‘‘Turner stigmata’’ (5). TS was associated with X chromosome monos-omy in 1959 by Ford et al. (6) in a prepubertal 14 year old with short stature and typical features. The devel-opment of routine cytogenetic analysis in the 1960s led to recognition of the diversity of chromosomal com-plements associated with TS (7,8).

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  Genetic Disorders and the Fetus

  Diagnosis, Prevention, and Treatment

  • Aubrey Milunsky, Jeff M. Milunsky(Authors)
  • 2015(Publication Date)
  • Wiley-Blackwell

    (Publisher)

  The addition of an extra X chromosome to a normal male chromosome constitution produces the 47,XXY karyotype. This is commonly referred to as Klinefelter syndrome, although the full constellation of the clinical features first described by Klinefelter in 1942, including testicular dysgenesis, elevated urinary gonadotropins, and gynecomastia, are often not present.

  Klinefelter syndrome is the most common cause of hypogonadism in males144 and is the most common SCA. The fetal survival rate is approximately 97 percent, making the newborn incidence about 1 per 600 male births.145 In the United States, this incidence amounts to about 8–9 births per day or at least 3,000 males per year with 47,XXY. Affected males who are diagnosed come to attention in one of three ways: (i) a karyotype is performed as part of an infertility evaluation or the presence of gynecomastia, (ii) a karyotype is performed as part of an evaluation for learning and behavioral disorders in childhood, or (iii) it is inadvertently diagnosed prenatally. The majority are never identified.146 The phenotype does not appear to differ according to ascertainment.147

  It has been suggested that the dup Xq11–Xq22 may be sufficient for the expression of Klinefelter syndrome.148 The presence of the extra X chromosome can be attributed to either maternal or paternal nondisjunction in a gamete. Approximately 50 percent of the additional X chromosomes come from the father and 50 percent of cases are maternally derived. There is no imprinting effect. Advanced maternal age is associated with 47,XXY, but to a lesser degree than in autosomal aneuploidy.149 It now appears that the frequency of XY sperm increases with age in fathers of boys with Klinefelter syndrome, implicating an advanced paternal age effect.145, 150

  Clinical features and management

  The main features of the 47,XXY syndrome include tall stature, small testes, infertility, and a risk for developmental and behavioral disorders.146 There is considerable variability in clinical findings.

  The newborn with 47,XXY typically has no significant dysmorphism. There is no increased incidence of birth defects. Genitalia are usually normal. Boys with this karyotype tend to be tall, with increased length of the lower extremities. Height velocity is increased by 5 years of age, and by adolescence most are at or above the 75th percentile.147

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  Sex Chromosome Abnormalities And Human Behavior

  Psychological Studies

  • Daniel B Berch, Bruce G Bender(Authors)
  • 2019(Publication Date)
  • CRC Press

    (Publisher)

  In 1938, Henry Turner first formally identified a syndrome comprised of sexual infantilism, short stature, primary amenorrhea, webbed neck, and cubitus valgus (wide carrying angle at the elbow). Wilkins and Fleischmann (1944) subsequently demonstrated that ovarian dysgenesis was another cardinal feature of what later became known as Turner syndrome. An assortment of other physical malformations and clinical manifestations have since been detected in individuals with Turner syndrome, albeit with a relatively wide variation of frequency. These include a shield chest, low hairline, various skeletal abnormalities, lymphedema at birth, coarctation of the aorta, recurrent otitis media, hearing loss, and renal abnormalities. It is of historical interest to note that as early as 1749, Morgnani (cited in Turpin & Lejeune, 1969) provided a clinical description of a 66-year-old woman whose anatomical features correspond to the physical stigmata that characterize Turner syndrome.

  It was not until 1959 that the sex chromosome constitution of Turner individuals was determined to be abnormal. Ford and his co-investigators demonstrated that a woman presenting with classic clinical features had a 45,X karyotype, indicating complete loss of the second X chromosome. This outcome in fact was predicted five years earlier by Polani, Hunter, and Lennox (1954). It is now known that approximately 55% of females with Turner syndrome have such a karyotype. The remaining 45% have either partial X monosomy or mosaicism; the latter type consists of two cell lines, one with the second X chromosome missing and the other, normal. The incidence of Turner syndrome is about 1 in 2500 live female births.

  Both cognitive and psychosocial characteristics of Turner females have been of interest to researchers over the past 25 years, with the former attracting most of the attention. First reports of intellectual status suggested that Turner syndrome is associated with mental retardation or, at best, dull intelligence (Haddad & Wilkins, 1959; Polani, 1960). Using the Wechsler scales, both Cohen (1962) and Shaffer (1962) subsequently showed that while the Verbal intelligence of Turner women fell within the normal range, their Performance IQ was below average, suggesting a selective deficit in spatial ability. These findings were later replicated by Money (1963), Buckley (1971), and more recently by a number of other investigators (see Chapter 3

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  Symposium on Nuclear Sex

  • D. Robertson Smith, William M. Davidson, D. Robertson Smith, William M. Davidson(Authors)
  • 2013(Publication Date)
  • Butterworth-Heinemann

    (Publisher)

  (b) Klinefelter's syndrome and Turner's syndrome (Bassöe, 2. T h e association of Klinefelter's syndrome with: (a) Dystrophia myotonica (Grumbach et al., 1957). (b) Laurence-Moon-Biedl syndrome (Francke, 1950). (c) Osseous abnormalities of the type apparently sometimes seen in Turner's syndrome (Sohval and Soffer, 1953). 3. T h e association of Turner's syndrome with dystrophia myotonica (Nadler et al., 1950). N A T U R E O F G E N E T I C D E F E C T T h e reported facts could be explained by a chromosomal aberration involving the autosomal masculinizing (M) loci with triplication in the chromatin positive, genetic female ( X X ) cases and deletion in the chromatin negative, genetic male ( X Y ) cases. Autosomal translocation is one type of aberration which could explain the facts. * Further investigations, not yet completed, have shown that the account of the Rhesus anomaly presented to the Symposium was an oversimplification and that the association with Klinefelter's syndrome may prove to have been fortuitous. NATURE OF THE GENETIC DEFECT I27 1. Chromatin positive cases would be masculinized females ( M M M X X ) . 2. Chromatin negative cases would be feminized males ( M X Y ) . 3. A reciprocal translocation in a grandparent with a balanced translocation in either parent could, by segregation, give chromatin positive and negative cases in a sibship. 4. Associations with other syndromes could be due to involve-ment of the appropriate loci in the translocation. REFERENCES Bassoe, H. H. (1956) J. Clin. Endoc., 1 6 , 1614. Francke, C. (1950) J. Clin. Endoc, 1 0 , 108. Grumbach, M. M., Blanc, W. A. and Engle, Ε. T. (1957) J. Clin. Endoc., 1 7 , 703. Nadler, C. S., Steiger, W. Α., Troncelleti, H. and Durant, T. H. (1950) J. Clin. Endoc, 1 0 , 630. Sohval, A. R. and Soffer, L.

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  Textbook of Assisted Reproductive Techniques

  Two Volume Set

  • David K. Gardner, Ariel Weissman, Colin M. Howles, Zeev Shoham(Authors)
  • 2017(Publication Date)
  • CRC Press

    (Publisher)

  183 :302–3.

  5. FortiG, CoronaG, VignozziL, et al. Klinefelter’s syndrome: A clinical and therapeutical update. Sex Dev . 2010;4 :167–9.

  6. Van AsscheE, BonduelleM, TournayeH, et al. Cytogenetics of infertile men. Hum Reprod . 1996;11 :1–26.

  7. YoshidaA, MiuraK, ShiraiM, et al. Cytogenetic survey of 1007 infertile males. Urol Int . 1997;58 :166–76.

  8. MartinRH. Cytogenetic determinants of male fertility. Hum Reprod Update . 2008;14 :379–90.

  9. WeilD, WangI, DietrichA, et al. Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombination resulting in XX maleness. Nat Genet . 1994;7 :414–9.

  10. SchiebelK, WinkelmannM, MertzA, et al. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+) XX males and (Y-) XY females. Hum Mol Genet . 1997;6 :1985–9.

  11. VoronaE, ZitzmannM, GromollJ, et al. Clinical, endocrinological, and epigenetic features of the 46, XX male syndrome, compared with 47, XXY Klinefelter patients. J Clin Endocrinol Metab . 2007;92 :3458–65.

  12. SinclairAH, BertaP, PalmerMS, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature . 1990;346 :240–4.

  13. FullertonG, HamiltonM, MaheshwariA. Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?Hum Reprod . 2010;25 :588–97.

  14. TiepoloL, ZuffardiO. Localization of factors controlling spermatogenesis in the nonfluorescent position of the human Y chromosome long arm. Hum Genet . 1976;34 :119–24.

  15. MassartA, LissensW, TournayeH, StouffsK. Genetic causes of spermatogenic failure. Asian J Androl . 2012;14 :40–8.

  16. SkaletskyH, Kuroda-KawaguchiT, MinxPJ, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature . 2003;423 :825–37.

  17. ReppingS, SkaletskyH, LangeJ, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet . 2002;71

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