A Phenotypical XXYY Human Male with Notes on Two Regular Klinefelter Cases

Takagi, Nobuo; Makino, Sajiro; Takai, Shudo; Hikita, Masahiro

doi:10.2183/pjab1945.41.175

Cited by 7 publications

(1 citation statement)

References 10 publications

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“…48,XXYY syndrome is considered to be a subtype of Klinefelter’s syndrome, and it rarely occurs, with an incidence of one in 25,000–50,000 persons, in contrast to the incidence of Klinefelter’s syndrome with the XXY karyotype of one in 1,000 ( 1 , 2 ). The tendency of a tall stature in patients with 48,XXYY syndrome compared to XXY patients has been reported ( 3 ).…”

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confidence: 99%

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype

Katsushima¹,

Katsushima²,

Katsushima³

2008

Clin Pediatr Endocrinol

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We report an 18-yr-old Japanese boy with a 48,XXYY karyotype and extreme tall stature (194 cm). A GnRH test at 12.5 yr of age showed hypergonadotropism (LH, 4.2 → 72.2 mIU/mL; FSH, 28.9 → 61.7 mIU/mL), and an hCG test at 15.5 yr of age revealed a normal testosterone response (1.67 → 4.08 ng/mL). The tall stature is remarkable, because the mean adult height of Caucasian 48,XXYY patients is 181 cm. Although the underlying factors for the tall stature are unknown, this report indicates an association of the 48,XXYY karyotype with marked tall stature.

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Section: Introductionmentioning

confidence: 99%

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype

Katsushima¹,

Katsushima²,

Katsushima³

2008

Clin Pediatr Endocrinol

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Do the 48, XXYY males have a characteristic phenotype? A Review

Borgaonkar¹,

Mules²,

Char³

1970

Clinical Genetics

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Do the 48, XXYY males have a characteristic phenotype? A Review

1970

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Data on fifty‐three patients with 48, XXYY chromosome complement were collected from the literature and personal correspondence and reviewed with the objective of delineating a ‘uniform phenotype.’ Although no single stigma was found to be characteristic of the 48, XXYY males, tall stature, low upper segment/lower segment ratio, mental retardation, and behavior problems in a phenotypic male (including prepubertal age group) should raise the question of a 48, XXYY chromosome basic defect. In the majority of cases testicular biopsies revealed varying degrees of atrophy, levels of FSH were elevated, and 17 KS were low to normal, both characteristics being comparable to those found in 47, XXY males. Dermatoglyphic changes were found to be reduced total finger ridge count, increased frequency of arches on fingers, presence of a hypothenar pattern, distally placed triradius, and occasional qimian crease.

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A Phenotypical XXYY Human Male with Notes on Two Regular Klinefelter Cases

Cited by 7 publications

References 10 publications

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype

Do the 48, XXYY males have a characteristic phenotype? A Review

Do the 48, XXYY males have a characteristic phenotype? A Review

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