Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
-
Mari Satoh
,
Keiko Aso
Abstract
Subjects who are heterozygous for thyroid stimulating hormone receptor (TSHR) gene mutations present various phenotypes that range from euthyroid to hyperthyrotropinemia. Similarly, heterozygous dual oxidase 2 (DUOX2) gene mutations result in variable phenotypes, such as transient congenital hypothyroidism, subclinical hyperthyrotropinemia, and euthyroid in children. Here, we describe an 8-year-old boy who had normal newborn screening results, but who developed nonautoimmune hypothyroidism at the age of 1 year and 8 months of age. He was heterozygous for previously reported R450H-TSHR mutation and heterozygous for a novel double mutant allele A1323T-DUOX2 and L1343F-DUOX2. He needed levothyroxine (l-T4) replacement therapy to keep serum TSH levels within normal limits; l-T4 dose of 2.01–2.65 μg/kg/day corresponded to the dose taken by children homozygous for R450H-TSHR and by children with permanent congenital hypothyroidism. Therefore, the coexistence of a heterozygous TSHR mutation and a heterozygous DUOX2 mutation may have affected the severity of his hypothyroid condition.
References
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©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Obesity
- Childhood obesity at the crossroads
- Obesogenic environments: environmental approaches to obesity prevention
- Childhood obesity and eating behaviour
- Hypothalamic obesity in children: pathophysiology to clinical management
- The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
- Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
- The effect of body mass index on blood pressure varies by race among obese children
- Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
- Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
- The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
- Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
- Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
- Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
- Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
- Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
- The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
- Review article
- Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
- Original articles
- IGF-II expression and methylation in small for gestational age infants
- Early screening of FTO and MC4R variants in newborns of Greek origin
- Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
- The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
- Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
- Vitamin D status and its associations with components of metabolic syndrome in healthy children
- Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
- Patient reports
- Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
- Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
- A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
- Ovotesticular disorder of sex development with unusual karyotype: patient report
- First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
- Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
- Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
- Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
- Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
- Hyperthyroidism hidden by congenital central hypoventilation syndrome
- The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
- Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
- Cushing syndrome related to leukemic infiltration of the central nervous system
- Hashimoto’s encephalopathy: a rare pediatric brain disease
- Short communication
- A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
Artikel in diesem Heft
- Frontmatter
- Highlight: Obesity
- Childhood obesity at the crossroads
- Obesogenic environments: environmental approaches to obesity prevention
- Childhood obesity and eating behaviour
- Hypothalamic obesity in children: pathophysiology to clinical management
- The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
- Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
- The effect of body mass index on blood pressure varies by race among obese children
- Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
- Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
- The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
- Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
- Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
- Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
- Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
- Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
- The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
- Review article
- Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
- Original articles
- IGF-II expression and methylation in small for gestational age infants
- Early screening of FTO and MC4R variants in newborns of Greek origin
- Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
- The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
- Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
- Vitamin D status and its associations with components of metabolic syndrome in healthy children
- Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
- Patient reports
- Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
- Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
- An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
- A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
- Ovotesticular disorder of sex development with unusual karyotype: patient report
- First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
- Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
- Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
- Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
- Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
- Hyperthyroidism hidden by congenital central hypoventilation syndrome
- The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
- Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
- Cushing syndrome related to leukemic infiltration of the central nervous system
- Hashimoto’s encephalopathy: a rare pediatric brain disease
- Short communication
- A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
