47,XYY Syndrome and Male Infertility

Men with 47,XYY syndrome present with varying physical attributes and degrees of infertility. A retrospective chart review was performed on a male infertility and genetic anomaly database. Three patients with 47,XYY were found. Each presented with > 2 years of infertility. All were tall with elevated body mass indices. Scrotal findings ranged from normal to atrophic testicles. Semen analyses demonstrated oligospermia and varying endocrine profiles. Because of the diverse phenotype and potential lack of symptoms, identification and diagnosis of men with 47,XYY syndrome may be difficult. We recommend careful screening of 47,XYY patients and referral to primary physicians for long-term follow-up for increased incidence of health-related comorbidities.Key words: Infertility syndromesThe 47,XYY sex chromosome variation is the most common sex chromosome anomaly after Klinefelter syndrome (47,XXY),^1–3 occurring in approximately 1 out of 1000 live male births.^4,5 Parental nondisjunction at meiosis II resulting in an extra Y chromosome produces a 47,XYY karyotype in the affected offspring.^6–8 46,XY/47,XYY mosaics from parental nondisjunction during cell division after postzygotic mitosis can result in addition of the extra Y chromosome in early embryonic development.^6,8Most patients with 47,XYY have a delayed diagnosis, with a median age of 17.1 years at diagnosis, as was shown in a Danish cohort study.⁹ Although most have no phenotypic abnormalities, XYY boys are at greater risk for behavioral problems, mild learning disability, delayed speech and language development, and tall stature.¹⁰ Studies have increasingly reported an association between 47,XYY and fertility problems, noting an increased incidence of chromosomally abnormal spermatozoa in the semen of men with 47,XXY syndrome.^7,11–15 This greater prevalence of hyperhaploid sperm results in an increased risk of passing the extra Y chromosome to offspring.¹⁴ Men with 47,XXY syndrome can have variable sperm counts, ranging from normal to azoospermia.^{3,8,14,16–18}Here we review pertinent findings on physical examination and laboratory evaluation in three men with 47,XXY syndrome diagnosed during infertility evaluation as well as review the available literature on the subject, with special emphasis on male fertility effects.     

Dermatoglyphics in the Bushmen

Analysis of the dermatoglyphics of a sample of Kung Bushmen living in the Kalahari of north-east Namibia is presented, and the results are compared with those of other Bushmen studies. A high frequency of arches, a low ridge count, and high frequencies of pattern reduction forms, appear characteristic.     

Incidence of 47,XYY males: Implications of the production of 47,XYY offspring by 47,XYY males

Abstract

Chromosomally normal 46,XY males can have 47,XYY male offspring as a result of fertilization of a normal ovum by a YY spermatozoon, produced by nondisjunction in the second meiotic division or by mitotic nondisjunction of the Y chromosome in early stages of embryonic development of a 46,XY fetus. If such meiotic and mitotic nondisjunctions were random events and if these were the only source of 47,XYY males in the population, the incidence of 47,XYY males would remain constant. Two cases have been reported, however, in which 47,XYY males produced 47,XYY male offspring. If there are 47,XYY males who are a source of 47,XYY males in the population, there is the possibility that the incidence of 47,XYY males is changing. A discrete‐generation model is presented which describes (1) the change in incidence of 47,XYY males from one generation to the next; (2) the incidence at equilibrium; and (3) the incidence as a function of the probability that a 47.XYY male has a 47,XYY offspring, and as a function of the mean number of offspring of 47,XYY males relative to the mean number of offspring of 46,XY males.     

Dermatoglyphics and the origin of races

Digital pattern type frequencies and frequencies of patterns in the Hypothenar, Thenar/Ist interdigital, IInd and IIIrd interdigital areas have been used for computing multivariate distances among four human geographical races. Results: Europids and Negrids stand near one another, Mongolids are remote from both and Australids are more remote from the three other races. This pattern of phenetic relationships corresponds to the evolutionary tree of Homo sapiens as reconstructed by the author on the basis of palaeoanthropological data.     

Dermatoglyphics of the Efe pygmies.

This paper deals with the dermatoglyphics in a group of Efe Pygmies, especially with the quantitative traits of fingers, as well as with palmar dermatoglyphics. This material was collected by P. Schebesta in Zaire and was partially published already by J.A. Valsík in 1938.     

Dermatoglyphics in phenylketonuria

Dermatoglyphics of 100 phenylketonurics and 200 controls matched for ethnic origin and sex were compared. The present study of dermatoglyphics in phenylketonurics is consistent with results showing that single gene disorders have fewer and less striking anomalies of ridge development than diseases with gross chromosomal defects.Analysis revealed a decreased frequency of whorl patterns on the finger tips and a wider mean summed atd angle among affected females as compared to normal females. The males showed no significant differences. Limited as they were to one sex, the differences seem unlikely to be attributable to the effect of the phenylketonuric gene.This research was supported by the Minnesota Association for Retarded Children, The Graduate School of the University of Minnesota and United States Public Health Service Grant Number HD 01507-01.     

Dermatoglyphics in Phenylketonuria

The dermatoglyphic characteristics on the fingertips, palms and soles of 100 Polish children with proven diagnosis (urine test and blood serum tests) of PKU and of the parents of 23 of them were studied. Our results confirm that PKU is not characterized by dermatoglyphic differences. An apparent diminution in complexity of finger pattern type in patients is shown to be due to the genetic relationship between the parents and their offspring rather than the influence of the PKU disorder itself.     

Les Hommes XYY

The constitution 47,XYY is the second most common dysgonosomy, occurring at frequencies of between 1/851 to 1 1.000 male births. A part from their large size, these men are physically no different from the population in general. Their occasional learning difficulties are easily resolved by family and educational support. As children, they tend to be quick tempered but we not agressive towards others. They have difficulty in concentrating and appear to be disturbed by an unstable family environment which can lead to problems of delinquency. Careful upbringing allows them, as adults to adjust well in family, conjugal and social situations. The majority are fertile and their offspring normal, since the supernumary Y is eliminated during spermatogenesis. When regulation of this process is defective, oligospermy or azoospermy appears to result. However, the proportion of XYY subjects which are sterile due to this phenomenons is not well known. Likewise, their eventuel predisposition to hematological malignancies has not been well investigated. Further studies should resolve these questions.     

XYY spermatogenesis in XO/XY/XYY mosaic mice

The relative frequencies of XYY and XY cells in XO/XY/XYY mosaic mice were compared between somatic cells (bone marrow) and spermatogonia, and between spermatogonia and pachytene or MI spermatocytes. The results indicated there was no selection either for or against XYY spermatogonia. There was, however, a strong selection against XYY spermatocytes during pachytene, with their almost total elimination by the first meiotic metaphase. At pachytene, most XYY cells had trivalent or X univalent/YY bivalent configurations. These findings are contrasted with previous studies of XYY spermatogenesis in mice and are discussed with respect to a model that invokes sex-chromosome univalence as the cause of XYY spermatogenic failure.     

Partial XYY syndrome

Summary A 13-year-old boy with 47 chromosomes, an extra small metacentric chromosome and karyotype 47,XY,?Yq- is presented. He has psychiatric symptoms typical of boys with karyotype 47,XYY as seen in the tabulated results of a psychiatric study of 22 boys with the XYY syndrome, examined at the Cytogenetic Laboratory, Århus State Hospital, Risskov.

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Zusammenfassung Es wird über einen 13 Jahre alten Jungen berichtet mit 47 Chromosomen, einem zusätzlichen kleinen metazentrischen Chromosom und der Karyotype 47,XY, ?Yq-. Er weist die typischen psychischen Symptome für Jungen mit der Karyotype 47,XYY auf, wie man aus den tabellarisch dargestellten Ergebnissen der psychiatrischen Untersuchung von insgesamt 22 Jungen mit XYY-Syndrom, die am cytogenetischen Labor, Århus State Hospital, Risskov, untersucht wurden, ersehen kann.