Klinefelter syndrome: expanding the phenotype and identifying new research directions

Joe Leigh Simpson; Felix de la Cruz; Ronald S Swerdloff; Carole Samango-Sprouse; Niels E Skakkebaek; John M Graham; Terry Hassold; Melissa Aylstock; Heino F L Meyer-Bahlburg; Huntington F Willard; Judith G Hall; Wael Salameh; Kyle Boone; Catherine Staessen; Dan Geschwind; Jay Giedd; Adrian S Dobs; Alan Rogol; Bonnie Brinton; C Alvin Paulsen

doi:10.1097/01.gim.0000095626.54201.d0

Klinefelter syndrome: expanding the phenotype and identifying new research directions

Joe Leigh Simpson, Felix de la Cruz, Ronald S Swerdloff, Carole Samango-Sprouse, Niels E Skakkebaek, John M Graham, Terry Hassold, Melissa Aylstock, Heino F L Meyer-Bahlburg, Huntington F Willard, Judith G Hall, Wael Salameh, Kyle Boone, Catherine Staessen, Dan Geschwind, Jay Giedd, Adrian S Dobs, Alan Rogol, Bonnie Brinton, C Alvin Paulsen

Department of Growth and Reproduction

173 Citations (Scopus)

Abstract

PURPOSE: The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities.

METHODS: This study was conducted using critical reviews of selective topics, emphasizing less well-recognized clinical findings.

RESULTS AND CONCLUSIONS: The phenotype of the prototypic 47,XXY case is well recognized: seminiferous tubule dysgenesis and androgen deficiency. Less well appreciated is the varied expressivity of 47,XXY Klinefelter syndrome, in particular neurological/cognitive perturbations like language and behavioral problems. Effective therapies are available. Reproductive technologies allow 47,XXY men to sire offspring through intracytoplasmic sperm injection (ICSI); however, genetic counseling is complex and success is low. Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Early treatment may be imperative for optimal outcome.

Original language	English
Journal	Genetics in medicine : official journal of the American College of Medical Genetics
Volume	5
Issue number	6
Pages (from-to)	460-8
Number of pages	9
ISSN	1098-3600
DOIs	https://doi.org/10.1097/01.gim.0000095626.54201.d0
Publication status	Published - 2003

Keywords

Biomedical Research
Genetic Counseling
Humans
Intelligence Tests
Klinefelter Syndrome/genetics
Language Development
Male

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Simpson, J. L., de la Cruz, F., Swerdloff, R. S., Samango-Sprouse, C., Skakkebaek, N. E., Graham, J. M., Hassold, T., Aylstock, M., Meyer-Bahlburg, H. F. L., Willard, H. F., Hall, J. G., Salameh, W., Boone, K., Staessen, C., Geschwind, D., Giedd, J., Dobs, A. S., Rogol, A., Brinton, B., & Paulsen, C. A. (2003). Klinefelter syndrome: expanding the phenotype and identifying new research directions. Genetics in medicine : official journal of the American College of Medical Genetics, 5(6), 460-8. https://doi.org/10.1097/01.gim.0000095626.54201.d0

Simpson, JL, de la Cruz, F, Swerdloff, RS, Samango-Sprouse, C, Skakkebaek, NE, Graham, JM, Hassold, T, Aylstock, M, Meyer-Bahlburg, HFL, Willard, HF, Hall, JG, Salameh, W, Boone, K, Staessen, C, Geschwind, D, Giedd, J, Dobs, AS, Rogol, A, Brinton, B & Paulsen, CA 2003, 'Klinefelter syndrome: expanding the phenotype and identifying new research directions', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 5, no. 6, pp. 460-8. https://doi.org/10.1097/01.gim.0000095626.54201.d0

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abstract = "PURPOSE: The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities.METHODS: This study was conducted using critical reviews of selective topics, emphasizing less well-recognized clinical findings.RESULTS AND CONCLUSIONS: The phenotype of the prototypic 47,XXY case is well recognized: seminiferous tubule dysgenesis and androgen deficiency. Less well appreciated is the varied expressivity of 47,XXY Klinefelter syndrome, in particular neurological/cognitive perturbations like language and behavioral problems. Effective therapies are available. Reproductive technologies allow 47,XXY men to sire offspring through intracytoplasmic sperm injection (ICSI); however, genetic counseling is complex and success is low. Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Early treatment may be imperative for optimal outcome.",

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AU - Swerdloff, Ronald S

AU - Samango-Sprouse, Carole

AU - Skakkebaek, Niels E

AU - Graham, John M

AU - Hassold, Terry

AU - Aylstock, Melissa

AU - Meyer-Bahlburg, Heino F L

AU - Willard, Huntington F

AU - Hall, Judith G

AU - Salameh, Wael

AU - Boone, Kyle

AU - Staessen, Catherine

AU - Geschwind, Dan

AU - Giedd, Jay

AU - Dobs, Adrian S

AU - Rogol, Alan

AU - Brinton, Bonnie

AU - Paulsen, C Alvin

PY - 2003

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AB - PURPOSE: The purpose of this study is to summarize new data on etiology and clinical features of Klinefelter syndrome in order to derive research priorities.METHODS: This study was conducted using critical reviews of selective topics, emphasizing less well-recognized clinical findings.RESULTS AND CONCLUSIONS: The phenotype of the prototypic 47,XXY case is well recognized: seminiferous tubule dysgenesis and androgen deficiency. Less well appreciated is the varied expressivity of 47,XXY Klinefelter syndrome, in particular neurological/cognitive perturbations like language and behavioral problems. Effective therapies are available. Reproductive technologies allow 47,XXY men to sire offspring through intracytoplasmic sperm injection (ICSI); however, genetic counseling is complex and success is low. Behavioral and expressive language difficulties are amenable to treatment by androgen therapy and psychological help. Early treatment may be imperative for optimal outcome.

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Klinefelter syndrome: expanding the phenotype and identifying new research directions

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Keywords

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