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; Huntingdon 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, Huntingdon 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

Research output: Contribution to journal › Review article › peer-review

171 Scopus citations

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
Pages (from-to)	460-468
Number of pages	9
Journal	Genetics in Medicine
Volume	5
Issue number	6
DOIs	https://doi.org/10.1097/01.GIM.0000095626.54201.D0
State	Published - Nov 2003
Externally published	Yes

Keywords

Klinefelter syndrome
Language
Neurocognitive
Seminiferous tubules

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10.1097/01.GIM.0000095626.54201.D0

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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., & Alvin Paulsen, C. (2003). Klinefelter syndrome: Expanding the phenotype and identifying new research directions. Genetics in Medicine, 5(6), 460-468. https://doi.org/10.1097/01.GIM.0000095626.54201.D0

@article{b67f75c796a54ef191f5f4972ff41ce5,

title = "Klinefelter syndrome: Expanding the phenotype and identifying new research directions",

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.",

keywords = "Klinefelter syndrome, Language, Neurocognitive, Seminiferous tubules",

author = "Simpson, \{Joe Leigh\} and \{De La Cruz\}, Felix and Swerdloff, \{Ronald S.\} and Carole Samango-Sprouse and Skakkebaek, \{Niels E.\} and Graham, \{John M.\} and Terry Hassold and Melissa Aylstock and Meyer-Bahlburg, \{Heino F.L.\} and Willard, \{Huntingdon F.\} and Hall, \{Judith G.\} and Wael Salameh and Kyle Boone and Catherine Staessen and Dan Geschwind and Jay Giedd and Dobs, \{Adrian S.\} and Alan Rogol and Bonnie Brinton and \{Alvin Paulsen\}, C.",

year = "2003",

month = nov,

doi = "10.1097/01.GIM.0000095626.54201.D0",

language = "English",

volume = "5",

pages = "460--468",

journal = "Genetics in Medicine",

issn = "1098-3600",

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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 & Alvin Paulsen, C 2003, 'Klinefelter syndrome: Expanding the phenotype and identifying new research directions', Genetics in Medicine, vol. 5, no. 6, pp. 460-468. https://doi.org/10.1097/01.GIM.0000095626.54201.D0

TY - JOUR

T1 - Klinefelter syndrome

T2 - Expanding the phenotype and identifying new research directions

AU - Simpson, Joe Leigh

AU - De La Cruz, Felix

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, Huntingdon 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 - Alvin Paulsen, C.

PY - 2003/11

Y1 - 2003/11

N2 - 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.

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.

KW - Klinefelter syndrome

KW - Language

KW - Neurocognitive

KW - Seminiferous tubules

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DO - 10.1097/01.GIM.0000095626.54201.D0

M3 - Review article

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AN - SCOPUS:10744225919

SN - 1098-3600

VL - 5

SP - 460

EP - 468

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 6

ER -

Klinefelter syndrome: Expanding the phenotype and identifying new research directions

Abstract

Keywords

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