Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading
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Abha Choudhary
Abstract
Here we report the case of a young girl who had vague signs and symptoms potentially attributable to hyperthyroidism and was found to have autoimmune thyroiditis and hyperthyroxinemia. The elevated serum free thyroxine levels were persistent when measured by both standard assays and equilibrium dialysis/high-pressure liquid chromatography-tandem mass spectrometry. The clinical symptoms, with discordant thyroid test results, created a diagnostic dilemma that led initially to unnecessary additional evaluations. She was ultimately found to have familial dysalbuminemic hyperthyroxinemia (FDH) and required no therapy. This case highlights the inherent difficulties in evaluating children, who typically have vague signs and symptoms of thyroid dysfunction, when, in addition, they have an unrelated acquired (autoimmune) as well as a genetic (FDH) defect. The benefit of including testing for immediate members of the family is emphasized.
Acknowledgments
This work was supported in part by grant DK15070 from the National Institute of Diabetes and Digestive and Kidney Diseases.
References
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©2015 by De Gruyter
Artikel in diesem Heft
- Frontmatter
- Highlight: Childhood Craniopharyngioma
- Selected papers from the 3rd International Multidisciplinary Postgraduate Course, April 24–27, 2014
- Childhood craniopharyngioma – current status and recent perspectives in diagnostics and treatment
- The importance of interdisciplinary communication with patients about complex, chronic illnesses: our experiences as parents of a child with a craniopharyngioma
- Adamantinomatous craniopharyngioma: pathology, molecular genetics and mouse models
- Endocrine aspects and sequel in patients with craniopharyngioma
- Surgery for pediatric craniopharyngiomas: is less more?
- Eating behavior, weight problems and eating disorders in 101 long-term survivors of childhood-onset craniopharyngioma
- Carbohydrate-lipid profile and use of metformin with micronized fenofibrate in reducing metabolic consequences of craniopharyngioma treatment in children: single institution experience
- Effects of T3 treatment on brown adipose tissue and energy expenditure in a patient with craniopharyngioma and hypothalamic obesity
- Hypothalamic obesity after treatment for craniopharyngioma: the importance of the home environment
- Review article
- Association study of TAC3 and TACR3 gene polymorphisms with idiopathic precocious puberty in Chinese girls
- Images in pediatric endocrinology
- Intestinal invagination in diabetic ketoacidosis: case report
- Original articles
- Managing incidental findings and disclosure of results in a paediatric research cohort – the LIFE Child Study cohort
- The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation
- Gender differences and age-related changes in body fat mass in Tibetan children and teenagers: an analysis by the bioelectrical impedance method
- A study of genes involved in adipocyte differentiation
- Initiation of growth hormone therapy in idiopathic short stature: do gender differences exist?
- The influence of puberty on vitamin D status in obese children and the possible relation between vitamin D deficiency and insulin resistance
- Growth failure associated with early neglect: pilot comparison of neglected US children and international adoptees
- Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions
- Variability of lipid and lipoprotein concentrations during puberty in Brazilian boys
- Skin advanced glycation endproducts are elevated at onset of type 1 diabetes in youth
- Can optical coherence tomography predict early retinal microvascular pathology in type 1 diabetic adolescents without minimal diabetic retinopathy? A single-centre study
- Decreased levels of homoarginine and asymmetric dimethylarginine in children with type 1 diabetes: associations with cardiovascular risk factors but no effect by atorvastin
- Influence of catch-up growth on abdominal fat distribution in very low birth weight children – cohort study
- Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents
- Pulmonary function in children with type 1 diabetes mellitus
- Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification
- Effect of l-thyroxine supplementation on infants with transient hypothyroxinemia of prematurity at 18 months of corrected age: randomized clinical trial
- Vitamin D-containing supplements for children between 1–3 years of age: Are they essential for bone health?
- Anti-Mullerian hormone levels in American girls by age and race/ethnicity
- The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III
- Thyroid disease in Chinese girls with Turner syndrome
- Patient reports
- Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report
- Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene
- Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance
- A case of pediatric ectopic thyroid in lateral lymph nodes
- Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature
- Needle detachment from the Sure-T® infusion set in two young children with diabetes mellitus (DM) treated with continuous subcutaneous insulin infusion (CSII) and unexplained hyperglycaemia
- Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading
Artikel in diesem Heft
- Frontmatter
- Highlight: Childhood Craniopharyngioma
- Selected papers from the 3rd International Multidisciplinary Postgraduate Course, April 24–27, 2014
- Childhood craniopharyngioma – current status and recent perspectives in diagnostics and treatment
- The importance of interdisciplinary communication with patients about complex, chronic illnesses: our experiences as parents of a child with a craniopharyngioma
- Adamantinomatous craniopharyngioma: pathology, molecular genetics and mouse models
- Endocrine aspects and sequel in patients with craniopharyngioma
- Surgery for pediatric craniopharyngiomas: is less more?
- Eating behavior, weight problems and eating disorders in 101 long-term survivors of childhood-onset craniopharyngioma
- Carbohydrate-lipid profile and use of metformin with micronized fenofibrate in reducing metabolic consequences of craniopharyngioma treatment in children: single institution experience
- Effects of T3 treatment on brown adipose tissue and energy expenditure in a patient with craniopharyngioma and hypothalamic obesity
- Hypothalamic obesity after treatment for craniopharyngioma: the importance of the home environment
- Review article
- Association study of TAC3 and TACR3 gene polymorphisms with idiopathic precocious puberty in Chinese girls
- Images in pediatric endocrinology
- Intestinal invagination in diabetic ketoacidosis: case report
- Original articles
- Managing incidental findings and disclosure of results in a paediatric research cohort – the LIFE Child Study cohort
- The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation
- Gender differences and age-related changes in body fat mass in Tibetan children and teenagers: an analysis by the bioelectrical impedance method
- A study of genes involved in adipocyte differentiation
- Initiation of growth hormone therapy in idiopathic short stature: do gender differences exist?
- The influence of puberty on vitamin D status in obese children and the possible relation between vitamin D deficiency and insulin resistance
- Growth failure associated with early neglect: pilot comparison of neglected US children and international adoptees
- Effect of growth hormone deficiency on brain MRI findings among children with growth restrictions
- Variability of lipid and lipoprotein concentrations during puberty in Brazilian boys
- Skin advanced glycation endproducts are elevated at onset of type 1 diabetes in youth
- Can optical coherence tomography predict early retinal microvascular pathology in type 1 diabetic adolescents without minimal diabetic retinopathy? A single-centre study
- Decreased levels of homoarginine and asymmetric dimethylarginine in children with type 1 diabetes: associations with cardiovascular risk factors but no effect by atorvastin
- Influence of catch-up growth on abdominal fat distribution in very low birth weight children – cohort study
- Thyrotoxic, hypokalemic periodic paralysis (THPP) in adolescents
- Pulmonary function in children with type 1 diabetes mellitus
- Identification of deletions in children with congenital hypothyroidism and thyroid dysgenesis with the use of multiplex ligation-dependent probe amplification
- Effect of l-thyroxine supplementation on infants with transient hypothyroxinemia of prematurity at 18 months of corrected age: randomized clinical trial
- Vitamin D-containing supplements for children between 1–3 years of age: Are they essential for bone health?
- Anti-Mullerian hormone levels in American girls by age and race/ethnicity
- The effect of tailoring of cornstarch intake on stature in children with glycogen storage disease type III
- Thyroid disease in Chinese girls with Turner syndrome
- Patient reports
- Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report
- Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene
- Novel heterozygous IGF1R mutation in two brothers with developing impaired glucose tolerance
- A case of pediatric ectopic thyroid in lateral lymph nodes
- Hyperostosis-hyperphosphatemia syndrome (HHS): report of two cases with a recurrent mutation and review of the literature
- Needle detachment from the Sure-T® infusion set in two young children with diabetes mellitus (DM) treated with continuous subcutaneous insulin infusion (CSII) and unexplained hyperglycaemia
- Familial dysalbuminemic hyperthyroxinemia in a 4-year-old girl with hyperactivity, palpitations and advanced dental age: how gold standard assays may be misleading
