ESPE Abstracts

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

Background: Congenital hyperinsulinism (CH) is the most common cause of persistent hypoglycemia in neonatal period. The inadequate secretion of insulin leads to high morbidity and mortality in those newborns. Despite the recent progress in the diagnosis and management of CH, until recently, the situation in Brazil has been that of early 1990’s. The epidemiology is unknown and state-of-the art management has not been available.Objective and hypothese...

Background: It is long been known that thyroid hormone (TH) is essential for brain development; however most evidence is based almost on rodent models. Since the advent of advanced neuroimaging techniques, it is now possible to study the manifestations of TH role in developing human brain.Objective and hypotheses: To examine findings from structural and functional MRI investigations of maternal hypothyroidism and congenital hypothyroidism (CH), which rep...

Background: In vitro fertilisation (IVF) has been widely used during the last decades. Increased susceptibility to birth defects and a higher cardiometabolic risk in children born after IVF than naturally conceived (NC) children have been reported. Also, a higher incidence of hyperthyrotropinemia has been noted in children born after IVF with respect to NC children and has been attributed to an epigenetic modification of the TSH set-point.Object...

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

Introduction: Transient congenital hypothyroidism (TCH) refers to a temporary deficiency of thyroid hormone identified after birth, with low thyroxine (T4) and elevated thyrotropin (TSH). Approximately 17%-40% of children diagnosed with CH by newborn screening (NBS), have transient hypothyroidism. Levo-thyroxine (L-T4) early treatment is recommended at the dose 10-15 µg/kg/day. Children with thyroid gland in situ should be re-evaluated after the ...

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

Background: Congenital hypopituitarism (CH), involving deficiencies in one or more anterior pituitary hormones, is rarely observed in combination with severe joint contractures, termed arthrogryposis. Schaaf-Yang syndrome (SHFYNG), which has phenotypic overlap with Prader-Willi syndrome, may be associated with arthrogryposis. L1 syndrome, a group of X-linked disorders including hydrocephalus and spasticity of the lower limbs, may also present with generalized contractures in r...

Context: Maternal Graves’ disease (GD) may lead to not only thyrotoxicosis but also hypothyroidism in neonates. We describe a case of transient central hypothyroidism (CH) due to undiagnosed maternal GD.Case presentation: A 4-month old Japanese girl visited our hospital for the treatment of hypothyroidism. She was born after 37-week gestation, weighting 2320g. She developed hypoglycemia and admitted to the prior hospital. She exhibited hypothyroxine...