Genetic and endocrine findings in a 48, xxyy male

Zachary T. Bloomgarden; C. Dawn Delozier; Melinda P. Cohen; Alfred G. Kasselberg; Eric Engel; David Rabin

doi:10.1210/jcem-50-4-740

Genetic and endocrine findings in a 48, xxyy male

Zachary T. Bloomgarden, C. Dawn Delozier, Melinda P. Cohen, Alfred G. Kasselberg, Eric Engel, David Rabin

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Characteristics of a 16-yr-old male with a 48, XXYY karyotype are presented; this chromosome constitution was demonstrated consistently in four tissues studied. Basal gonadotropins were elevated, and serum testosterone varied between 3.2-4.0 ng/ml. A pronounced rise was observed in LH after LRH administration with a lesser rise of FSH. The testis displayed hyperplasia of the interstitial cells, tubular atrophy, absent spermatogenesis with preservation of some Sertoli cells, and peritubular fibrosis. The phenotypic, behavioral, endocrine, and pathological features of this patient are compared with those found in males with the 47, XXY and 47.XYY syndromes. The 48, XXYY phenotype may result from compounding effects of the additional X and Y chromosomes.

Original language	English
Pages (from-to)	740-743
Number of pages	4
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	50
Issue number	4
DOIs	https://doi.org/10.1210/jcem-50-4-740
State	Published - Apr 1980
Externally published	Yes

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title = "Genetic and endocrine findings in a 48, xxyy male",

abstract = "Characteristics of a 16-yr-old male with a 48, XXYY karyotype are presented; this chromosome constitution was demonstrated consistently in four tissues studied. Basal gonadotropins were elevated, and serum testosterone varied between 3.2-4.0 ng/ml. A pronounced rise was observed in LH after LRH administration with a lesser rise of FSH. The testis displayed hyperplasia of the interstitial cells, tubular atrophy, absent spermatogenesis with preservation of some Sertoli cells, and peritubular fibrosis. The phenotypic, behavioral, endocrine, and pathological features of this patient are compared with those found in males with the 47, XXY and 47.XYY syndromes. The 48, XXYY phenotype may result from compounding effects of the additional X and Y chromosomes.",

author = "Bloomgarden, {Zachary T.} and Delozier, {C. Dawn} and Cohen, {Melinda P.} and Kasselberg, {Alfred G.} and Eric Engel and David Rabin",

year = "1980",

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doi = "10.1210/jcem-50-4-740",

language = "English",

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T1 - Genetic and endocrine findings in a 48, xxyy male

AU - Bloomgarden, Zachary T.

AU - Delozier, C. Dawn

AU - Cohen, Melinda P.

AU - Kasselberg, Alfred G.

AU - Engel, Eric

AU - Rabin, David

PY - 1980/4

Y1 - 1980/4

N2 - Characteristics of a 16-yr-old male with a 48, XXYY karyotype are presented; this chromosome constitution was demonstrated consistently in four tissues studied. Basal gonadotropins were elevated, and serum testosterone varied between 3.2-4.0 ng/ml. A pronounced rise was observed in LH after LRH administration with a lesser rise of FSH. The testis displayed hyperplasia of the interstitial cells, tubular atrophy, absent spermatogenesis with preservation of some Sertoli cells, and peritubular fibrosis. The phenotypic, behavioral, endocrine, and pathological features of this patient are compared with those found in males with the 47, XXY and 47.XYY syndromes. The 48, XXYY phenotype may result from compounding effects of the additional X and Y chromosomes.

AB - Characteristics of a 16-yr-old male with a 48, XXYY karyotype are presented; this chromosome constitution was demonstrated consistently in four tissues studied. Basal gonadotropins were elevated, and serum testosterone varied between 3.2-4.0 ng/ml. A pronounced rise was observed in LH after LRH administration with a lesser rise of FSH. The testis displayed hyperplasia of the interstitial cells, tubular atrophy, absent spermatogenesis with preservation of some Sertoli cells, and peritubular fibrosis. The phenotypic, behavioral, endocrine, and pathological features of this patient are compared with those found in males with the 47, XXY and 47.XYY syndromes. The 48, XXYY phenotype may result from compounding effects of the additional X and Y chromosomes.

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JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

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ER -

Genetic and endocrine findings in a 48, xxyy male

Abstract

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