Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
CONCLUSIONS: Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations. Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations. The correlation between genotype and phenotype needs further study. Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.PMID:37486441 | DOI:10.1007/s12519-023-00739-1 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - July 24, 2023 Category: Pediatrics Authors: Wen-Li Lu Xiao-Yu Ma Jiao Zhang Jun-Qi Wang Ting-Ting Zhang Lei Ye Yuan Xiao Zhi-Ya Dong Wei Wang Shou-Yue Sun Chuan-Yin Li Rong-Gui Hu Guang Ning Li-Dan Zhang Source Type: research

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
CONCLUSIONS: Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations. Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations. The correlation between genotype and phenotype needs further study. Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.PMID:37486441 | DOI:10.1007/s12519-023-00739-1 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - July 24, 2023 Category: Pediatrics Authors: Wen-Li Lu Xiao-Yu Ma Jiao Zhang Jun-Qi Wang Ting-Ting Zhang Lei Ye Yuan Xiao Zhi-Ya Dong Wei Wang Shou-Yue Sun Chuan-Yin Li Rong-Gui Hu Guang Ning Li-Dan Zhang Source Type: research

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
CONCLUSIONS: Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations. Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations. The correlation between genotype and phenotype needs further study. Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.PMID:37486441 | DOI:10.1007/s12519-023-00739-1 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - July 24, 2023 Category: Pediatrics Authors: Wen-Li Lu Xiao-Yu Ma Jiao Zhang Jun-Qi Wang Ting-Ting Zhang Lei Ye Yuan Xiao Zhi-Ya Dong Wei Wang Shou-Yue Sun Chuan-Yin Li Rong-Gui Hu Guang Ning Li-Dan Zhang Source Type: research

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency
CONCLUSIONS: Our study found that there was no significant correlation between each specific mutation and the severity of clinical manifestations. Different patients with the same gene pathogenic variant may have mild or severe clinical manifestations. The correlation between genotype and phenotype needs further study. Three-dimensional protein simulations may provide additional support for the physiopathological mechanism of genetic mutations.PMID:37486441 | DOI:10.1007/s12519-023-00739-1 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - July 24, 2023 Category: Pediatrics Authors: Wen-Li Lu Xiao-Yu Ma Jiao Zhang Jun-Qi Wang Ting-Ting Zhang Lei Ye Yuan Xiao Zhi-Ya Dong Wei Wang Shou-Yue Sun Chuan-Yin Li Rong-Gui Hu Guang Ning Li-Dan Zhang Source Type: research

Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan
Obstet Gynecol. 2023 Aug 1;142(2):257-268. doi: 10.1097/AOG.0000000000005263. Epub 2023 Jul 5.ABSTRACTCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared d...
Source: Obstetrics and Gynecology - July 20, 2023 Category: OBGYN Authors: Noor Zwayne Reeti Chawla Kathleen van Leeuwen Source Type: research

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia
CONCLUSION: Children with CAH do not have a greater number of anxiety or depression symptoms as compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation and not only after voiced caregiver concern.PMID:37470306 | DOI:10.4274/jcrpe.galenos.2023.2023-2-10 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 20, 2023 Category: Endocrinology Authors: Marianne Jacob Karen Lin-Su Corinne Catarozoli Charlene Thomas Dix Poppas Oksana Lekarev Source Type: research

Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan
Obstet Gynecol. 2023 Aug 1;142(2):257-268. doi: 10.1097/AOG.0000000000005263. Epub 2023 Jul 5.ABSTRACTCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared d...
Source: Obstetrics and Gynecology - July 20, 2023 Category: OBGYN Authors: Noor Zwayne Reeti Chawla Kathleen van Leeuwen Source Type: research

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia
CONCLUSION: Children with CAH do not have a greater number of anxiety or depression symptoms as compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation and not only after voiced caregiver concern.PMID:37470306 | DOI:10.4274/jcrpe.galenos.2023.2023-2-10 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 20, 2023 Category: Endocrinology Authors: Marianne Jacob Karen Lin-Su Corinne Catarozoli Charlene Thomas Dix Poppas Oksana Lekarev Source Type: research

Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan
Obstet Gynecol. 2023 Aug 1;142(2):257-268. doi: 10.1097/AOG.0000000000005263. Epub 2023 Jul 5.ABSTRACTCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared d...
Source: Obstetrics and Gynecology - July 20, 2023 Category: OBGYN Authors: Noor Zwayne Reeti Chawla Kathleen van Leeuwen Source Type: research

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia
CONCLUSION: Children with CAH do not have a greater number of anxiety or depression symptoms as compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation and not only after voiced caregiver concern.PMID:37470306 | DOI:10.4274/jcrpe.galenos.2023.2023-2-10 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 20, 2023 Category: Endocrinology Authors: Marianne Jacob Karen Lin-Su Corinne Catarozoli Charlene Thomas Dix Poppas Oksana Lekarev Source Type: research

Caring for Patients With Congenital Adrenal Hyperplasia Throughout the Lifespan
Obstet Gynecol. 2023 Aug 1;142(2):257-268. doi: 10.1097/AOG.0000000000005263. Epub 2023 Jul 5.ABSTRACTCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting cortisol and aldosterone biosynthesis, which can lead to virilization in fetuses with a 46,XX karyotype. 21-hydroxylase deficiency is the most common cause of CAH, accounting for 90-99% of all patients with the condition. The management of patients with CAH should be done with a multidisciplinary team, which would address all of the complex components of their care throughout their lifespans. Many multidisciplinary teams have adopted shared d...
Source: Obstetrics and Gynecology - July 20, 2023 Category: OBGYN Authors: Noor Zwayne Reeti Chawla Kathleen van Leeuwen Source Type: research

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia
CONCLUSION: Children with CAH do not have a greater number of anxiety or depression symptoms as compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation and not only after voiced caregiver concern.PMID:37470306 | DOI:10.4274/jcrpe.galenos.2023.2023-2-10 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - July 20, 2023 Category: Endocrinology Authors: Marianne Jacob Karen Lin-Su Corinne Catarozoli Charlene Thomas Dix Poppas Oksana Lekarev Source Type: research