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
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
