Chromatin-positive Klinefelter's Syndrome Research Articles

Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels

An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. The subject manifested chromosomal mosalcism consisting of three stem cell lines (45X; 46XY; and 47XXY). Testicular biopsy specimen showed germinal cell aplasia: the tubules were lined by Sertoli cells only, whereas the Leydig cells appeared normal. Serum human follicle stimulating hormone levels were undetectable and rose to only 5 mlU/ml after the administration of luteinizing hormone releasing hormone. Serum human luteinizing hormone varied between normal and moderately elevated values, and serum testosterone was in the low normal range. We discuss the features which distinguish this syndrome from isolated gonadotropin deficiency and from classic germinal cell aplasia. We suggest that the patient represents a new variant of Klinefelter's syndrome, with failure of human follicle stimulating hormone release secondary to prolonged hypersecretion.

Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels: Rabinowitz D, Cohen MM, Rosenmann E, Rosenmann A, Segal S, Bell J, Rosler A, Spitz I: Am J Med 59: 584–590, 1975

Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels: Rabinowitz D, Cohen MM, Rosenmann E, Rosenmann A, Segal S, Bell J, Rosler A, Spitz I: Am J Med 59: 584–590, 1975

PLASMA TESTOSTERONE IN KLINEFELTER'S SYNDROME: DIURNAL VARIATION AND RESPONSE TO ACTH AND DEXAMETHASONE

The mean basal plasma testosterone level in 28 patients with chromatin positive Klinefelter's syndrome was significantly lower than in 58 healthy male controls. In 12 of the patients the hormone levels were in the normal range. In both the eugonadal males and the Klinefelter patients the plasma testosterone levels spontaneously decreased throughout the day, the relative decrease in both groups being of the same order of magnitude. Short term ACTH infusion and the administration of dexamethasone did not significantly influence the plasma testosterone concentration in the Klinefelter patients. These findings do not support the view that the adrenal cortex plays a major role in contributing to the circulating plasma testosterone levels in this syndrome.

Leydig cell volume in chromatin-positive Klinefelter's syndrome.

The volume of Leydig cells (VId) has been measured histometrically, using biopsies, in a retrospective series of 50 cases of chromatin-positive Klinefelter's syndrome. The mean VId was 0.82 ml, which is within normal limits. It therefore appears that there is no hyperplasia of these cells in this condition. The only very high VId appeared to be the result of removal of the other testis ten years earlier. Three cases with very low VId showed marked evidence of androgen deficiency.

Behavior patterns in chromatin-positive Klinefelter's syndrome of sheep.

VARIOUS behavioural disorders have been reported to be associated with chromatin-positive Klinefelter's syndrome, in addition to the classical form of male sterility characterized by azoospermia and hypogonadism. Subnormal intelligence was first noted in patients with chromatin-positive Klinefelter's syndrome who were attending male infertility clinics1. Later surveys of mentally defective men in many countries have revealed a frequency of chromatin-positive Klinefelter's syndrome of 0.85 per cent. Ferguson-Smith2, summarizing these reports, pointed out that this incidence was four times higher than among the general population. He2 also recorded several claims that there are various behavioural disorders in patients with chromatin-positive Klinefelter's syndrome. These include delinquency, alcoholism, criminal tendencies and sexual deviations. As well as mental deficiency the common mental disorder known as schizophrenia was reported in many cases.

Frequency of diabetes mellitus in patients with Klinefelter's syndrome of different chromosome constitutions and the XYY syndrome. Plasma insulin and growth hormone level after a glucose load.

Glucose tolerance and plasma insulin and growth hormone response to a glucose load have been studied in 31 patients with chromatin-positive Klinefelter's syndrome with different sex chromosome constitution, 8 with chromatin-negative Klinefelter's syndrome, and 6 with the XYY syndrome. We found that 39% of patients with chromatin-positive Klinefelter's syndrome had a diabetic GTT; 19% of their mothers had overt diabetes mellitus. These frequencies are significantly higher than expected. One of the 8 patients with chromatin-negative Klinefelter's syndrome and none of the 6 patients with the XYY syndrome had a diabetic GTT. The diabetes in patients with Klinefelter's syndrome was of a mild type, as is most often found in diabetes of maturity-onset type. The insulin response was, however, different from what is usually found in maturity-onset diabetes. The patients with Klinefelter's syndrome had a brisk rise of plasma insulin and prolonged high levels after glucose ingestion. The inability of endogenous insulin to decrease the blood sugar level was not due to elevated plasma growth hormone. However, there was a peak plasma growth hormone at 2, 2½ and 3 hr in 8 of 23 patients with chromatin-positive Klinefelter's syndrome. The etiology and pathogenesis of the mild diabetes in patients with chromatin-positive Klinefelter's syndrome are discussed.

Testicular hypoplasia and XXY sex chromosome complement in two rams: the ovine counterpart of Klinefelter's syndrome in man.

Summary. Two sheep of different breed displayed gross testicular hypoplasia, azoospermia, and apparent aspermatogenesis. The modal chromosome number was 55 in all tissues studied, the extra chromosome being identified as an X from sex chromatin studies on one animal. The abnormalities resemble those of chromatin-positive Klinefelter's syndrome in man, with a comparable incidence and a possibly identical cause in the two species.

Klinefelter's syndrome, dizygotic twinning and diabetes mellitus.

Engel and Forbes1,2 noted that chromosomal non-disjunction commonly occurs in families with a genetic predisposition to “autoimmunity”. From a review of the literature, and a study of eighteen patients with chromatin-positive Klinefelter's syndrome, Nielsen3 proposed that this syndrome is probably associated with dizygotic twinning. He also summarized the results of three surveys which indicate that the frequency of twin births in sibships containing Turner's syndrome is about twice that in the general population. He concluded3 that similar mechanisms may be responsible for sex chromosome non-disjunction and dizygotic twinning.

Some psychological test characteristics of Klinefelter's syndrome.

Males with chromatin positive Klinefelter's syndrome are observed to have one or more extra X chromosomes within their cells. Diagnosis is by buccal mucosa smear and chromosome analysis. Clinically they have delayed puberty, abnormal physique, small testicles and little facial hair. This paper presents some observed differences between Klinefelter patients who were being treated in subnormality units and other patients not having the condition but with similar I.Q.s.

Hormone Secretion in Klinefelter's Syndrome-Reply

I bow to Dr. Segre's comments. He is quite correct. The 17-ketosteroid excretion is a reflection of many precursors, only one of which is testosterone. In the reference given as a source for the statement in question, of 17 patients with chromatin-positive Klinefelter's syndrome, 12 had 17-ketosteroid excretions in the normal range, 3 had below normal, and 2 had above normal excretions. Undoubtedly, although androgens make up some proportion of this excretion, many other precursors are involved. It is interesting that testosterone is believed to originate in the Leydig cells (which are abundant in the small Klinefelter's testis), but nonandrogenic hormones apparently arise from the seminiferous tubules (which are dysgenetic and presumably poorly functioning in this syndrome). What is truly needed is more complete determination of the precursors produced by the Klinefelte-'s patient, in an effort to learn what makes up the proportion not produced as testosterone, if this is

Chromatin-positive Klinefelter's syndrome: Clinical and cytogenetic studies

The clinical, laboratory and cytogenetic studies on 8 patients with chromatin-positive Klinefelter's syndrome are reported. All had gynecomastia, small testes, decreased body hair, eunuchoid proportions, increased excretion of follicle-stimulating hormone, and psychiatric or mental problems. The results of chromosome studies including a case of XXY/XX mosaicism are presented. Differential diagnostic features, the natural history, and the type and frequency of associated disorders in Klinefelter's syndrome are discussed. Although this disorder is the most common cause of male hypogonadism, there is a lack of well-documented cases, particularly those dealing with males 50 years of age or over. In order to prevent psychiatric sequelae, early treatment is advised.

Berylliosis: report of two cases, with special reference to the patch test.

In some cases the discrepancy between nuclear sex and inferred sex-chromosome complement of the tumour and of the patient may be more apparent than real. Both Carpentier et al (1956) and Hienz (1961) have described dysgerminomata in chromatin-negative women with ovarian dysgenesis. Hunter and Lennox (1954) described the case of a boy with a chromatin-positive pineal teratoma who was later shown to have chromatin positive Klinefelter's syndrome (Lennox, 1960), and W. M. Davidson (personal communication 1962) has recently seen a further patient with Klinefelter's syndrome and a chromatin-positive teratoma.

Spontaneous occurrence of chromosome abnormality in cats.

A syndrome in male cats analogous to chromatin-positive Klinefelter's syndrome in human males has been demonstrated. The physical characteristics which suggested an abnormality of chromosome number in cats were "calico" or "tortoise-shell" coat colors in a male. Buccal mucosal smears were found to have "female-type" patterns in two out of 12 such male cats screened, and these two were found to have a diploid chromosome number of 39 rather than the normal 38. Testicular biopsy performed on one revealed an abnormal pattern; no gonadal tissue was found in the other cat with an abnormal chromosome number. These findings indicate that the cat, in addition to the mouse, is available for experimental study of chromosome number abnormalities.

The chromatin-positive Klinefelter syndrome among patients in mental deficiency hospitals.

The chromatin-positive Klinefelter syndrome among patients in mental deficiency hospitals.

Sexually deviant behavior in Klinefelter's syndrome

Summary A comparison between 10 mentally deficient individuals with chromatin-positive Klinefelter's syndrome and a control group of mentally defective males showed a much higher incidence of sexually deviant behavior among those with Klinefelter's syndrome. This difference was statistically significant, with a probability of occurrence by chance of less than 0.0025. A sex chromatin survey on 600 institutionalized male sexual psychopaths showed that 6 or 1.0 per cent were chromatin positive. This incidence, while above that of the general population, may have been brought about by certain social factors tending to favor the commitment of men with the abnormalities found in Klinefelter's syndrome. Recent observations in Klinefelter's syndrome indicate that chromatin testing should be done on boys with mental deficiency or with serious personality or behavioral disturbances, especially in those instances when Mongolism or twinning has occurred in the same sibship.