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.Congenital adrenal hyperplasia disorder due to 17 α-hydroxylase deficiency: a case report
Volume 39, Issue 1, December 2023 . (Source: Gynecological Endocrinology)
Source: Gynecological Endocrinology - September 8, 2023 Category: Endocrinology Authors: Yunling TianLijie HouShulan XiangXuguang TianJinhui Xua Department of Endocrinology and Metabolic, The First Hospital of Lanzhou University, Lanzhou, Gansu, P.R.Chinab Department of General Family Medicine, The First Hospital of Lanzhou University, Lanzho Source Type: research
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1
Biochem Genet. 2023 Sep 7. doi: 10.1007/s10528-023-10495-6. Online ahead of print.ABSTRACTCYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 can result in congenital adrenal hyperplasia. We discovered a proband with a CYP11B1 gene mutation. Gene sequencing revealed a homozygous missense mutation of c.1130C > T in the 7th exon of the CYP11B1 gene that resulted in the change from Pro377 to leucine in the encoded protein. Based on the proband's clinical symptoms and the prognosis according to the database, this mutation may b...
Source: Biochemical Genetics - September 7, 2023 Category: Genetics & Stem Cells Authors: Guoying Ma Reziwanguli Wusiman Suli Li Fuhui Ma Yanying Guo Source Type: research
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1
Biochem Genet. 2023 Sep 7. doi: 10.1007/s10528-023-10495-6. Online ahead of print.ABSTRACTCYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 can result in congenital adrenal hyperplasia. We discovered a proband with a CYP11B1 gene mutation. Gene sequencing revealed a homozygous missense mutation of c.1130C > T in the 7th exon of the CYP11B1 gene that resulted in the change from Pro377 to leucine in the encoded protein. Based on the proband's clinical symptoms and the prognosis according to the database, this mutation may b...
Source: Biochemical Genetics - September 7, 2023 Category: Genetics & Stem Cells Authors: Guoying Ma Reziwanguli Wusiman Suli Li Fuhui Ma Yanying Guo Source Type: research
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1
Biochem Genet. 2023 Sep 7. doi: 10.1007/s10528-023-10495-6. Online ahead of print.ABSTRACTCYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 can result in congenital adrenal hyperplasia. We discovered a proband with a CYP11B1 gene mutation. Gene sequencing revealed a homozygous missense mutation of c.1130C > T in the 7th exon of the CYP11B1 gene that resulted in the change from Pro377 to leucine in the encoded protein. Based on the proband's clinical symptoms and the prognosis according to the database, this mutation may b...
Source: Biochemical Genetics - September 7, 2023 Category: Genetics & Stem Cells Authors: Guoying Ma Reziwanguli Wusiman Suli Li Fuhui Ma Yanying Guo Source Type: research
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1
Biochem Genet. 2023 Sep 7. doi: 10.1007/s10528-023-10495-6. Online ahead of print.ABSTRACTCYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 can result in congenital adrenal hyperplasia. We discovered a proband with a CYP11B1 gene mutation. Gene sequencing revealed a homozygous missense mutation of c.1130C > T in the 7th exon of the CYP11B1 gene that resulted in the change from Pro377 to leucine in the encoded protein. Based on the proband's clinical symptoms and the prognosis according to the database, this mutation may b...
Source: Biochemical Genetics - September 7, 2023 Category: Genetics & Stem Cells Authors: Guoying Ma Reziwanguli Wusiman Suli Li Fuhui Ma Yanying Guo Source Type: research
Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in
Children and Adolescents
Conclusions This study describes clinical outcomes and the pathological
spectrum of adrenal tumors in children and adolescents. Adrenocortical tumors
mostly presented with an excess of the adrenocortical hormone. Patients with
genetic defects presented at a young age and large size of tumors, necessitating
genetic testing in patients at a young age. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Experimental and Clinical Endocrinology and Diabetes)
Source: Experimental and Clinical Endocrinology and Diabetes - September 6, 2023 Category: Endocrinology Authors: Kim, Ja Hye Choi, Yunha Hwang, Soojin Yoon, Ji-Hee Kim, Gu-Hwan Yoo, Han-Wook Choi, Jin-Ho Tags: Article Source Type: research
Course of COVID-19 infection in patients with congenital adrenal hyperplasia
Patients with primary adrenal insufficiency (PAI) are at risk for life-threatening adrenal crises that are most often triggered by illness. Prior studies suggest possible inefficient immune response in PAI. The COVID-19 pandemic created new risks and challenges for patient management. There is a lack of data regarding COVID-19, risk of severe illness, and prevention of adrenal crisis in patients with PAI due to congenital adrenal hyperplasia (CAH). (Source: Journal of Pediatric Nursing)
Source: Journal of Pediatric Nursing - September 1, 2023 Category: Nursing Authors: Amy Moon Source Type: research
Aromatase inhibitor monotherapy in non-classic congenital adrenal hyperplasia
Case 1 is a 19-year-old female, diagnosed with non-classic congenital adrenal hyperplasia (NCCAH) at age 3.5 years. Case 2 is the 17-year-old sister diagnosed with NCCAH at age 2 years. (Source: Journal of Pediatric Nursing)
Source: Journal of Pediatric Nursing - September 1, 2023 Category: Nursing Authors: Amy Drilling, Natalie Schmitz, Jane Torkelson Source Type: research
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
