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.Gonadotropin-Releasing Hormone Agonist Therapy and Longitudinal Bone Mineral Density in Congenital Adrenal Hyperplasia
CONCLUSION: In children with CAH, GnRHa does not compromise BMD. However, BMD decreases with time and during the second and third decades of life, a possible effect of chronic supraphysiologic glucocorticoids. Children with CAH who experience early puberty benefit from GnRHa treatment as evidenced by the positive effect on height.PMID:37643900 | DOI:10.1210/clinem/dgad514 (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - August 29, 2023 Category: Endocrinology Authors: Myrto Eleni Flokas Paul Wakim Sarah Kollender Ninet Sinaii Deborah P Merke 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
