The Experts below are selected from a list of 216 Experts worldwide ranked by ideXlab platform
Amy B Wisniewski - One of the best experts on this subject based on the ideXlab platform.
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degree of external Genital Malformation at birth in children with a disorder of sex development and subsequent caregiver distress
The Journal of Urology, 2012Co-Authors: Cortney Wolfechristensen, David A Fedele, Katherine Kirk, Timothy M Phillips, Tom Mazur, Larry L Mullins, Steven D Chernausek, Yegappan Lakshmanan, Amy B WisniewskiAbstract:Purpose: We determined whether the degree of Genital Malformation at birth in children with a disorder of sex development is related to subsequent caregiver distress, specifically symptoms of depression and anxiety.Materials and Methods: A total of 66 caregivers of children with disorders of sex development were recruited from 3 centers that specialize in disorders of sex development medicine. The caregivers completed the Beck Depression Inventory, 2nd Edition and the Beck Anxiety Inventory. The child's Prader score at birth was determined by the child's treating pediatric endocrinologist and/or pediatric urologist at each institution.Results: Results from the current study revealed that for caregivers of male children, under masculinization of the child's Genitals at birth was significantly related to higher levels of subsequent caregiver depression. In contrast, over masculinization of the Genitals of female children at birth was unrelated to caregiver depression or anxiety.Conclusions: These findings s...
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Degree of external Genital Malformation at birth in children with a disorder of sex development and subsequent caregiver distress.
The Journal of urology, 2012Co-Authors: Cortney Wolfe-christensen, David A Fedele, Katherine Kirk, Timothy M Phillips, Tom Mazur, Larry L Mullins, Steven D Chernausek, Yegappan Lakshmanan, Amy B WisniewskiAbstract:We determined whether the degree of Genital Malformation at birth in children with a disorder of sex development is related to subsequent caregiver distress, specifically symptoms of depression and anxiety. A total of 66 caregivers of children with disorders of sex development were recruited from 3 centers that specialize in disorders of sex development medicine. The caregivers completed the Beck Depression Inventory, 2nd Edition and the Beck Anxiety Inventory. The child's Prader score at birth was determined by the child's treating pediatric endocrinologist and/or pediatric urologist at each institution. Results from the current study revealed that for caregivers of male children, under masculinization of the child's Genitals at birth was significantly related to higher levels of subsequent caregiver depression. In contrast, over masculinization of the Genitals of female children at birth was unrelated to caregiver depression or anxiety. These findings suggest that caregivers of male children with disorders of sex development may be at increased risk for psychological distress and could benefit from family based psychosocial interventions. Copyright © 2012 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.
Oddmund Sovik - One of the best experts on this subject based on the ideXlab platform.
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a novel syndrome of diabetes mellitus renal dysfunction and Genital Malformation associated with a partial deletion of the pseudo pou domain of hepatocyte nuclear factor 1β
Human Molecular Genetics, 1999Co-Authors: Tom H Lindner, Pal R Njolstad, Yukio Horikawa, Leif Bostad, Graeme I Bell, Oddmund SovikAbstract:Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1β are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe Genital Malformations. The sequence of the HNF-1β gene (TCF2) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1β, a region implicated in the specificity of DNA binding. Functional studies of R137-K161del HNF-1β revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1β gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal Genital Malformations in two females suggests that additional clinical features may be associated with HNF-1β mutations.
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a novel syndrome of diabetes mellitus renal dysfunction and Genital Malformation associated with a partial deletion of the pseudo pou domain of hepatocyte nuclear factor 1β
Human Molecular Genetics, 1999Co-Authors: Tom H Lindner, Pal R Njolstad, Yukio Horikawa, Leif Bostad, Graeme I Bell, Oddmund SovikAbstract:: Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe Genital Malformations. The sequence of the HNF-1beta gene ( TCF2 ) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1beta, a region implicated in the specificity of DNA binding. Functional studies of R137-K161del HNF-1beta revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal Genital Malformations in two females suggests that additional clinical features may be associated with HNF-1beta mutations.
Pal R Njolstad - One of the best experts on this subject based on the ideXlab platform.
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a novel syndrome of diabetes mellitus renal dysfunction and Genital Malformation associated with a partial deletion of the pseudo pou domain of hepatocyte nuclear factor 1β
Human Molecular Genetics, 1999Co-Authors: Tom H Lindner, Pal R Njolstad, Yukio Horikawa, Leif Bostad, Graeme I Bell, Oddmund SovikAbstract:Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1β are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe Genital Malformations. The sequence of the HNF-1β gene (TCF2) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1β, a region implicated in the specificity of DNA binding. Functional studies of R137-K161del HNF-1β revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1β gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal Genital Malformations in two females suggests that additional clinical features may be associated with HNF-1β mutations.
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a novel syndrome of diabetes mellitus renal dysfunction and Genital Malformation associated with a partial deletion of the pseudo pou domain of hepatocyte nuclear factor 1β
Human Molecular Genetics, 1999Co-Authors: Tom H Lindner, Pal R Njolstad, Yukio Horikawa, Leif Bostad, Graeme I Bell, Oddmund SovikAbstract:: Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe Genital Malformations. The sequence of the HNF-1beta gene ( TCF2 ) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1beta, a region implicated in the specificity of DNA binding. Functional studies of R137-K161del HNF-1beta revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal Genital Malformations in two females suggests that additional clinical features may be associated with HNF-1beta mutations.
Tom H Lindner - One of the best experts on this subject based on the ideXlab platform.
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a novel syndrome of diabetes mellitus renal dysfunction and Genital Malformation associated with a partial deletion of the pseudo pou domain of hepatocyte nuclear factor 1β
Human Molecular Genetics, 1999Co-Authors: Tom H Lindner, Pal R Njolstad, Yukio Horikawa, Leif Bostad, Graeme I Bell, Oddmund SovikAbstract:Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1β are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe Genital Malformations. The sequence of the HNF-1β gene (TCF2) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1β, a region implicated in the specificity of DNA binding. Functional studies of R137-K161del HNF-1β revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1β gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal Genital Malformations in two females suggests that additional clinical features may be associated with HNF-1β mutations.
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a novel syndrome of diabetes mellitus renal dysfunction and Genital Malformation associated with a partial deletion of the pseudo pou domain of hepatocyte nuclear factor 1β
Human Molecular Genetics, 1999Co-Authors: Tom H Lindner, Pal R Njolstad, Yukio Horikawa, Leif Bostad, Graeme I Bell, Oddmund SovikAbstract:: Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5). We have studied a Norwegian family, N5, with a syndrome of mild diabetes, progressive non-diabetic renal disease and severe Genital Malformations. The sequence of the HNF-1beta gene ( TCF2 ) revealed a 75 bp deletion in exon 2 (409-483del) which would result in the synthesis of a protein lacking amino acids Arg137 to Lys161 (R137-K161del). This deletion is located in the pseudo-POU region of HNF-1beta, a region implicated in the specificity of DNA binding. Functional studies of R137-K161del HNF-1beta revealed that it could not bind an HNF-1 target sequence or stimulate transcription of a reporter gene indicating that this is a loss-of-function mutation. The R137-K161del allele co-segregated with diabetes and renal disease in pedigree N5. In addition, two of four female carriers with this mutation had vaginal aplasia and rudimentary uterus (Mullerian aplasia). These studies strongly suggest that heterozygous mutations in the HNF-1beta gene are associated with a syndrome characterized by MODY and severe, non-diabetic renal disease. Moreover, the presence of internal Genital Malformations in two females suggests that additional clinical features may be associated with HNF-1beta mutations.
Annette Gruters - One of the best experts on this subject based on the ideXlab platform.
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germline wilms tumor suppressor gene wt1 mutation leading to isolated Genital Malformation without wilms tumor or nephropathy
The Journal of Pediatrics, 2001Co-Authors: Birgit Kohler, Valerie Schumacher, Dagmar Lallemand, Brigitte Royerpokora, Annette GrutersAbstract:Abstract Mutations of the Wilms tumor suppressor gene ( WT1 ) have been described only in patients with syndromes associated with uroGenital Malformation and Wilms tumor or nephropathy. We present a male patient with an isolated Genital Malformation caused by a WT1 mutation. (J Pediatr 2001;138:421-4)