A novel mutation in thyrotropin (thyroid-stimulating hormone) gene in congenital hypothyroidism
-
Nilay Nirupam
,
Shelly Gupta
Abstract
A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism. In view of the associated dysmorphism, a karyotype analysis was done. It revealed a novel translocation mutation, 46XX t(1;14) (p22;q32). The association of this mutation with congenital hypothyroidism has been postulated in our case report. To the best of our knowledge, this mutation has never been described before in cases of congenital hypothyroidism.
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©2013 by Walter de Gruyter Berlin Boston
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Artikel in diesem Heft
- Masthead
- Masthead
- Editorial
- Success has many fathers, failure is orphan
- Review Article
- Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges
- Original Articles
- Temporary brittle bone disease: association with intracranial bleeding
- Asymmetric dimethylarginine (ADMA) and L-arginine levels in children with glycogen storage disease type I
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- The role of uncoupling protein 2 and 3 genes polymorphism and energy expenditure in obese Indonesian children
- Thyroid dysfunctions of prematurity and their impacts on neurodevelopmental outcome1)
- Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period
- Reference intervals for serum thyroid hormones in preterm hospitalized infants1)
- The clinical and biochemical presentation of vitamin D deficiency and insufficiency in children and adolescents
- A risk score for identifying overweight adolescents with dysglycemia in primary care settings1)
- Thyroid function and morphology in overweight and obese children and adolescents in a Chinese population
- Propionic acidaemia: demographic characteristics and complicationsa
- Negative correlation between serum IL-6 level and cardiorespiratory fitness in 10- to 11-year-old boys with increased BMI
- Penile length and genital anomalies in Egyptian male newborns: epidemiology and influence of endocrine disruptors
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