-
1
المؤلفون: Abigail Atterbury, Nicola Improda, Angela Barnicoat, Nadia Schoenmakers, Senthil Senniappan, Caroline Ponmani, Krishna Chatterjee, Mehul T. Dattani
المصدر: Hormone research in paediatrics. 88(2)
مصطلحات موضوعية: 0301 basic medicine, Male, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, endocrine system diseases, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, 030209 endocrinology & metabolism, urologic and male genital diseases, Thyroglobulin, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Internal medicine, Non compliance, Congenital Hypothyroidism, Medicine, Adrenal adenoma, Humans, Congenital adrenal hyperplasia, Child, biology, Adrenal Hyperplasia, Congenital, business.industry, 21-Hydroxylase, medicine.disease, Phenotype, Congenital hypothyroidism, Pedigree, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, biology.protein, Patient Compliance, Female, business, hormones, hormone substitutes, and hormone antagonists
الوصف: Background: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. Case Series: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/ p.T1416Rfs*30) and learning difficulties. Poor compliance and morbid obesity resulted in short stature, precocious puberty, hirsutism, amenorrhoea, insulin insensitivity and a possible adrenal adenoma. Sibling 3 (CYP21A2 and TG genotype similar to sibling 1) is a boy presenting with salt-wasting CAH, CH, and developmental delay. He was overweight and underwent precocious puberty. Although siblings 2 and 4 (both females) share the same CYP21A2 genotype (Intron 2 splice/p.V281L), the former only had biochemical evidence of CAH, while the latter presented at 9.8 years of age with a history of pubarche at 7 years and advanced bone age. Conclusions: We report the unusual occurrence of 2 rare autosomal recessive diseases, CAH and CH. Our cases highlight the phenotypic variability of CAH and CH due to TG mutations, even within a single family, and illustrate the importance of optimal disease control.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757dc562ebb4351fbbb1926a9805ead3Test
https://pubmed.ncbi.nlm.nih.gov/28359061Test -
2دورية أكاديمية
المؤلفون: Improda, Nicola, Ponmani, Caroline, Schoenmakers, Nadia, Senniappan, Senthil, Atterbury, Abigail, Barnicoat, Angela, Chatterjee, Krishna, Dattani, Mehul T.
المصدر: Hormone Research in Paediatrics; Sep2017, Vol. 88 Issue 2, p172-178, 7p, 1 Color Photograph, 1 Diagram, 1 Chart
مصطلحات موضوعية: ADRENOGENITAL syndrome, CONGENITAL hypothyroidism, GENETIC mutation, THERAPEUTICS
مستخلص: Background: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. Case Series: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/p.T1416Rfs*30) and learning difficulties. Poor compliance and morbid obesity resulted in short stature, precocious puberty, hirsutism, amenorrhoea, insulin insensitivity and a possible adrenal adenoma. Sibling 3 (CYP21A2 and TG genotype similar to sibling 1) is a boy presenting with salt-wasting CAH, CH, and developmental delay. He was overweight and underwent precocious puberty. Although siblings 2 and 4 (both females) share the same CYP21A2 genotype (Intron 2 splice/p.V281L), the former only had biochemical evidence of CAH, while the latter presented at 9.8 years of age with a history of pubarche at 7 years and advanced bone age. Conclusions: We report the unusual occurrence of 2 rare autosomal recessive diseases, CAH and CH. Our cases highlight the phenotypic variability of CAH and CH due to TG mutations, even within a single family, and illustrate the importance of optimal disease control. [ABSTRACT FROM AUTHOR]
: Copyright of Hormone Research in Paediatrics is the property of Karger AG and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)