Endocrine Abstracts

Objectives: At present no European recommendations for the management of pediatric thyroid nodules and differentiated thyroid carcinoma (DTC) exist. Differences in clinical, molecular, and pathological characteristics between pediatric and adult DTC emphasize the need for specific recommendations for the pediatric population.Methods and results: An expert panel was instituted by the executive committee of the European Thyroid Association (ETA) including ...

Context: Loss-of-function of immunoglobulin superfamily 1 (IGSF1) causes an X-linked syndrome of central hypothyroidism, macroorchidism, and variable prolactin deficiency, GH deficiency in childhood, delayed pubertal testosterone rise, and/or obesity. The clinical features advert towards a pivotal role for IGSF1 in the pituitary gland, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.Objective: To study detailed ...

Objectives: Congenital hypothyroidism (CH) is an inborn thyroid hormone (TH) deficiency mostly caused by disturbances at the thyroid level (thyroidal CH, CH-T). Less frequently, but equally important, CH can be the result of hypothalamic/pituitary dysfunction (central CH, CH-C). Most CH newborn screening (NBS) programs are based on the measurement of thyroid-stimulating hormone (TSH), thereby only detecting CH-T. The Dutch NBS detects CH by measuring total T4 concentrations in...

Introduction: In 1960, Van Wyk and Grumbach described the association of hypothyroidism and precocious puberty. Hypothyroidism leads to delayed bone age and a reduction in growth rate by reducing the amplitude of GH pulses. When precocious puberty is associated with thyroid hypofunction, estrogen action on the epiphyseal plates reduce this delay. We report the case of a child who developed incomplete puberty and reduced growth rate, caused by primary hypothyroidism.<p clas...

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...

Introduction: Congenital central hypothyroidism occurs either as isolated TSH deficiency or in conjunction with other pituitary hormone deficits. Undetected central hypothyroidism is associated with developmental delay in children and adverse cardiometabolic sequelae in adults. Hitherto, mutations in the TRH receptor (TRHR) or TSHβ subunit (TSHB) genes are the only known causes of isolated TSH deficiency.Methods: Using whole exome and candidate gene...

Introduction: The current guidelines state that the goals of growth hormone (GH) therapy should be an appropriate clinical response and avoidance of side effects. The target level for IGF1 is commonly the upper half of the reference range, although no published studies offer specific guidance in this regard. Therefore, the aim of the present study is to investigate associations between IGF1 levels within the reference range and several efficacy and safety measures of GH treatm...

Introduction: Thyroid disorders are generally diagnosed based on thyroid stimulating hormone (TSH) outside the reference interval (RI), and subsequent free thyroxine (FT4) concentrations. Most laboratories do not provide age-specific RIs for TSH and FT4 beyond childhood, although it is known that TSH concentrations vary with age which may be important to take into account. Therefore, we aimed to establish age-specific RIs for TSH and FT4 throughout life using an indirect metho...

Objective: Epidemiological evidence for a link between serum IGF1 concentration and cardiovascular disease in the general population and in patients with GH deficiency or hypersecretion has been demonstrated. However, the underlying mechanisms remain unresolved. We investigated associations between IGF1 levels within the reference range and different measures of cardiovascular function and risk factors in substituted GH deficient adults within a randomized clinical trial.<...

Introduction: Van Wyk-Grumbach syndrome was first described in 1960 in patients presenting with long standing juvenile hypothyroidism, delayed bone age and precocious puberty. Literature review indicates only few cases reported in males compared to females. We are reporting this case in a male patient who presented with short stature.Case: A 7.25-year-old boy was referred for endocrine opinion due to short stature. He had not grown over the last 18 month...