Congenital Adrenal Hyperplasia Research 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of < em > NR0B1 < /em > ( < em > DAX1 < /em > ) and Contiguous Gene
Ann Clin Lab Sci. 2023 Jul;53(4):667-670.ABSTRACTX-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, su...
Source: Annals of Clinical and Laboratory Science - August 25, 2023 Category: Laboratory Medicine Authors: Chungwoo Shin Sung Eun Kim Cheong Jun Moon Il Han Yoo Jisook Yim Won-Kyong Cho Myungshin Kim Jung Hyun Lee Source Type: research
CYP21A2 and CYP11B1 gene analyses in a virilized newborn female with congenital adrenal hyperplasia
Med Clin (Barc). 2023 Aug 17:S0025-7753(23)00460-8. doi: 10.1016/j.medcli.2023.07.010. Online ahead of print.NO ABSTRACTPMID:37598052 | DOI:10.1016/j.medcli.2023.07.010 (Source: Medicina Clinica)
Source: Medicina Clinica - August 19, 2023 Category: General Medicine Authors: Elena Llorente Mart ín Mar ía Jesús Dabad Moreno Bego ña Ezquieta Zubicaray Source Type: research
Depressive and anxiety disorders and antidepressant prescriptions among insured children and young adults with congenital adrenal hyperplasia in the United States
ConclusionsThe elevated prevalence of depressive and anxiety disorders and antidepressant prescriptions among youth with CAH suggests that screening for symptoms of depression and anxiety among this population might be warranted. (Source: Frontiers in Endocrinology)
Source: Frontiers in Endocrinology - August 17, 2023 Category: Endocrinology Source Type: research
Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype
Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism. With the advancement of molecular biology and medical genetics, increasing numbers of PORD cases were reported, and the clinical spectrum of PORD was extended with studies on underlying mechanisms of phenotype–genotype correlations and opt...
Source: Frontiers in Endocrinology - August 11, 2023 Category: Endocrinology Source Type: research
Genetic Characterization of a Cohort of Italian Patients with Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
ConclusionThis work, representing a comprehensive genetic study, expanded theCYP21A2 variants spectrum of Italian patients with 21OHD and could be helpful in prenatal diagnosis and genetic counseling. (Source: Molecular Diagnosis and Therapy)
Source: Molecular Diagnosis and Therapy - August 7, 2023 Category: Molecular Biology 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
