التفاصيل البيبلوغرافية
| العنوان: |
Intrafamilial Phenotypic Variability and Consequences of Non-Compliance with Treatment in Congenital Adrenal Hyperplasia and Congenital Hypothyroidism within a Single Family. |
| 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] |
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| قاعدة البيانات: |
Complementary Index |
