A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures

Patrick G. Brosnan; Ray C. Lewandowski; Allan G. Toguri; Andrew F. Payer; Walter J. Meyer

doi:10.1016/S0022-3476(80)80013-8

A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures

Patrick G. Brosnan, Ray C. Lewandowski, Allan G. Toguri, Andrew F. Payer, Walter J. Meyer

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

17 Scopus citations

Abstract

Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

Original language	English (US)
Pages (from-to)	586-590
Number of pages	5
Journal	The Journal of Pediatrics
Volume	97
Issue number	4
DOIs	https://doi.org/10.1016/S0022-3476(80)80013-8
State	Published - Oct 1980
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1016/S0022-3476(80)80013-8

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@article{4b70ca8c645a4f0ba8af955665f84128,

title = "A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures",

abstract = "Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.",

author = "Brosnan, {Patrick G.} and Lewandowski, {Ray C.} and Toguri, {Allan G.} and Payer, {Andrew F.} and Meyer, {Walter J.}",

note = "Funding Information: The Departments of Pediatrics, Surgery, and Anatomy, University of Texas Medical Branch, Galveston, and the Texas Department of MHMR Genetics Screening and Counseling. The patients were studied on the Clinical Research Center of the University of Texas Medical Branch supported by Grant RRO73 from the General Clinical Research Centers Program of Division of Research Resources, National Institute of Health. The research was supported by the Department of Pediatrics, University of Texas Medical Branch, Galveston. Presented in part at the 49th Annual Meeting of the Society for Pediatric Research, May 4, 1979, ~tlanta, Georgia (Pediatr Res. 13:484, 1979). *Reprints address: Division of Endocrinology, Department of Pediatrics, University of Texas Medical Branch, Galveston,. TX. 77550.",

year = "1980",

month = oct,

doi = "10.1016/S0022-3476(80)80013-8",

language = "English (US)",

volume = "97",

pages = "586--590",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Mosby Inc.",

number = "4",

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T1 - A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures

AU - Brosnan, Patrick G.

AU - Lewandowski, Ray C.

AU - Toguri, Allan G.

AU - Payer, Andrew F.

AU - Meyer, Walter J.

N1 - Funding Information: The Departments of Pediatrics, Surgery, and Anatomy, University of Texas Medical Branch, Galveston, and the Texas Department of MHMR Genetics Screening and Counseling. The patients were studied on the Clinical Research Center of the University of Texas Medical Branch supported by Grant RRO73 from the General Clinical Research Centers Program of Division of Research Resources, National Institute of Health. The research was supported by the Department of Pediatrics, University of Texas Medical Branch, Galveston. Presented in part at the 49th Annual Meeting of the Society for Pediatric Research, May 4, 1979, ~tlanta, Georgia (Pediatr Res. 13:484, 1979). *Reprints address: Division of Endocrinology, Department of Pediatrics, University of Texas Medical Branch, Galveston,. TX. 77550.

PY - 1980/10

Y1 - 1980/10

N2 - Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

AB - Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

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ER -

A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures

Abstract

ASJC Scopus subject areas

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