Klinefelter's Syndrome and Its Variants: A Hormonal and Chromosomal Study,

Paulsen, C. Alvin; Gordon, Donald L.; Carpenter, R.; Gandy, H. M.; Drucker, William D.

doi:10.1016/b978-1-4831-9827-9.50013-7

Cited by 78 publications

(76 citation statements)

References 170 publications

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“…In the fractions of 17-KS, Mizutani (1963) found markedly lower values of etiocholanolone and androsterone originating from the gonad as compared with normal males, while 11-oxygenated-17-KS originating from the adrenal was normal. On the other hand, radioimmunoassay of plasma testosterone revealed normal values according to Paulsen et al (1968) and Lipsett et al (1966 …”

Section: Discussionmentioning

confidence: 97%

“…This difference might be due to various problems in the method of determination of gonadotropin. Recently, radioimmunoassay was applied to this disease, and Paulsen et al (1968) and Ryan et al (1970) noted a rise of serum LH and FSH in patients with syndrome. In our own series, urinary and plasma gonadotropin gave considerable variation, and high values were not always obtained.…”

Section: Discussionmentioning

confidence: 99%

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Pituitary and Gonadal Function in Chromatin Positive XXY Klinefelter's Syndrome

Shirai

Matsuda

1973

Tohoku J. Exp. Med.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Pituitary and Gonadal Function in Chromatin Positive XXY Klinefelter's Syndrome

Shirai

Matsuda

1973

Tohoku J. Exp. Med.

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“…However, diagnosis of the 47 XXY pattern is rare prior to puberty because of the paucity and subtlety of the clinical manifestations in childhood [2][3][4][5]. [6].…”

Section: Discussionmentioning

confidence: 99%

Klinefelter Syndrome, Rare Variant 49, XXXXY

et al. 1991

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We describe the case of a rare variant of Klinefelter's syndrome with a 49 XXXXY karyotype. This rare form was first described in 1960 and has sufficiently distinctive features (compared with the classic 47 XXY karyotype) to be detected in childhood. Relevant features are compared with those described elsewhere in the literature. Case ReportA two-year, four-month-old Saudi male was referred to Suleimania Children's Hospital, Riyadh, because of recurrent chest infections and questionable immune deficiency.Past history revealed the child was born after an eight-month pregnancy with a low birth weight (1.5 kg), followed by delayed milestones (smiled at five months, sat at eighteen months, walked at two years, three months) and delayed speech. He exhibited emotional lability (cried very easily), had had recurrent chest infections, and had had conjunctivitis since six months of age.The parents were not related; the mother was 35 years old, and the father, 60 years. The seven siblings were normal and healthy.Growth parameters showed a height below 1.75 -SD, weight below 1 -SD, and normal head circumference. Examination revealed an immature-looking child showing delayed development, who showed abnormal features such as short neck, upward slanting palpebral fissures, hypertelorism, epicanthal folds, broad nose, kyphosis, and short incurved fifth finger. Other relevant features included limited elbow pronation, a soft systolic murmur with a loud second sound, and abnormal external genitalia with a very small phallus, undescended small atrophic testes, hypoplastic scrotum, and coronal hypospadias.Routine blood analysis (complete blood count, erythrocyte sedimentation rate, blood urea nitrogen, blood glucose, electrolytes) and urine test results were all normal. Tuberculin test (10 TU) was negative. Immunoglobulin assays showed normal IgG and IgM, and low IgA. IgG subclasses and cellular and nonspecific immunity were not evaluated. Hormonal blood assays showed a low testosterone level of 0.01 ng/ml (reference interval, 2.4-10.9 ng/ml) with a high follicle stimulating hormone (FSH) level of 31.1 IU/L (reference interval, 1.9-2 IU/L) and normal luteinizing (LH) hormone level of 3.2 mIU/ml (reference interval, 3.13-5 mIU/ml). Human chorionic gonadotropin (HCG) test showed a poor testosterone response (0.09 ng/ml). Lutenizing hormone releasing hormone (LHRH) showed a high FSH response, more so than the LH response. Chromosomal analysis showed a 49 XXXXY karyotype. Electrocardiogram revealed a relatively low-voltage, single ventricular extra systole. Ultrasound examination of the abdomen, echocardiogram, and computed tomographic scan of the brain (previously done in a local hospital) were normal. Skeletal survey showed delayed bone age (1 year), kyphosis, short incurved fifth finger, radioulnar synostosis, shallow acetabulum, and mild right hip dislocation. Chest x-ray study showed mild cardiomegaly. Based on these findings, Klinefelter's syndrome, rare variant 49 XXXXY, was diagnosed. The patient was managed symptomatically an...

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“…La cause de cette dysg6-n6sie est une aneuplo~die chromosomique avec une formule caryotypique 47,XXY. Dans 10% des cas une mosaYque 46,XY/47,XXY est not6e sur le caryotype, la pr6sentation clinique est alors habituellement moins s6v~-re avec une possible oligospermie [23,30], des grossesses spontan6es ont m~me 6t6 d6crites [21,38]. Des ?lots de spermatogen~se conserves et m~me des oligozoospermies s6v~res ont 6galement 6t6 retrouv6es chez des sujets 47,XXY en dehors de toute mosaique [41].…”

Section: Introductionunclassified

Syndrome de Klinefelter et microinjections intraovocytaires de spermatozoïdes (revue de la littérature)

Raverot

Lejeune

2003

Androl.

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Klinefelter's Syndrome and Its Variants: A Hormonal and Chromosomal Study,

Cited by 78 publications

References 170 publications

Pituitary and Gonadal Function in Chromatin Positive XXY Klinefelter's Syndrome

Pituitary and Gonadal Function in Chromatin Positive XXY Klinefelter's Syndrome

Klinefelter Syndrome, Rare Variant 49, XXXXY

Syndrome de Klinefelter et microinjections intraovocytaires de spermatozoïdes (revue de la littérature)

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