IMPE Abstracts

Medullary thyroid carcinoma (MTC) accounts 5% of thyroid malignancies. Sporadic is in approximately 80% and hereditary in 20% of cases. When hereditary it can be associated with other benign endocrine neoplasia’s and/or typical no endocrine diseases, thus configuring the multiple endocrine neoplasia syndromes. Traditional therapies for advanced or metastatic progressive MTC (pMTC) are poorly effective so Tyrosine-kinase inhibitors (TKIs) therapy in children with MTC have...

Introduction and aim: Establishing reference intervals (RI) is particularly problematic for constituents with a large diversity of existing biological variation and inter-population differences, as is observed for thyroid hormones and TSH. An alternative to this problem is to use indirect methods, with a large data pools base of results. Analyze thousands of subjects including some pathologic results is statistically stronger than 120 subjects that assume heal...

Introduction: Children with steroid-resistant nephrotic syndrome (SRNS) are at high risk of developing hypothyroidism due to the urinary loss of serum (s) thyroid hormone-binding proteins, thyroxine (T4) and triiodothyronine (T3). There are limited data on the variability in thyroid hormone profiles and replacement doses in pediatric SRNS.Aims: To analyze the thyroid hormone profile in pediatric patients with SRNS under ...

Introduction: Papillary thyroid cancer represents the eighth most frequent neoplasm in pediatrics. In the Instituto Nacional de Pediatría it is the most frequent endocrine neoplasm commonly associated with other thyroid disease.Objective: To evaluate the association between papillary thyroid cancer and risk factors such as sex, autoimmune thyroiditis, history of neoplasia and radiation.<stro...

Introduction: Thyroid nodules (TN) in childhood are infrequent, however, malignancy is reported in around 25%. Thyroid cancer is the most common endocrine malignancy in this age and has clinical, histopathological and molecular differences compared to adults. Fine needle aspiration biopsy (FNAB) is a sensitive test in the pediatric population to exclude malignancy, however, the implied malignancy risk in each reported category is extrapolated to adult populati...

Introduction: Neonatal hyperthyroidism is a rare condition frequently caused by the transplacental passage of TSH receptor antibodies (TRAb) from mothers affected by Graves’ disease (GD). Hyperthyroidism may occur in 1 to 8% of children born to women with this condition. The effects of maternal hyperthyroidism in the foetal developing brain are known to have deleterious effects. After birth, neuropsychological manifestations of overt hyperthyroidism are ...

Thyroid storm (TS) is the most extreme manifestation of thyrotoxicosis and is considered an endocrine emergency. In pediatrics there are only isolated case reports. We present the description of a pediatric case of TS. A 19-year-old female adolescent was evaluated for the 1° time in pediatric endocrinology unit in 2013, at the age of 10 years, for growth and development. On physical examination, goiter GII was detected. Detailed clinical history showed symptoms of anxiety,...

Background: Simpson Golabi Behmel syndrome (SGBS) is caused by loss-of-function mutations in the GPC3 gene, which encodes glypican-3, a cell-surface heparan sulfate proteoglycan that acts as a negative regulator of the Hedgehog signaling pathway during development. GPC3 mutations result in hyperactivation of Hedgehog signaling ultimately leading to pre- and postnatal overgrowth and cancer. On the other hand, thyroglossal duct cyst (TGD) is a ...

Introduction: Maternal Graves' disease (GD) is the most common cause of neonatal hyperthyroidism. Which by definition is transient and self-limited. There is also an infrequent cause of non-autoimmune persistent neonatal hyperthyroidism due to activating mutations in the TRH receptor (TSHR), both familial (FNAH) and sporadic (PSNAH), or to Protein G Mutation (Macune Albright Syndrome (GNAS). Neonatal screening for thyroid disease focuses on prevention of ...

Papillary thyroid carcinoma (PC) is rare in the pediatric age group. Diffuse sclerosing papillary carcinoma (DSPC) is a multifocal, less frequent variant associated with worse prognosis, recurrence, and higher mortality. We present a 5-year follow up of a child with DSPC, treated in our institution. Due to goiter, hypothyroidism, and elevated thyroid antibodies at 8.5-years, our patient was diagnosed with Hashimoto's thyroiditis (HT) and started treatment with L-thyroxine...

Introduction: The prevalence of vitiligo in the general population is 0.5 to 1%. Children under 12 years represent 23% of the patients with vitiligo. The most common type of vitiligo (85% of total) is the non-segmental. The prevalence of autoimmune thyroid disease in patients with non-segmental vitiligo is greater than the one reported in the general population. Hypothyroidism is the most common disorder seen in children with non-segmental vitiligo. Early diag...

Pelizaeus-Merzbacher disease (PMD; MIM 312080) is a rare X-linked genetic disorder due to a mutation of PLP-1 located on chromosome Xq22. PMD is a hypomyelinating leukodystrophy that results in progressive neurological disease due to loss of the myelin sheath. Gene duplication of PLP-1 is the most common cause of PMD and results in an excess of PLP-1 that then accumulates in the lysosome and causes hypomyelination and oligodendrocytes apoptosis. Patients often present with del...

Introduction: Childhood hyperparathyroidism is very uncommon having the incidence of 1 – 2.5 per 100,000. It is mostly manifested after 10 years of age and has been transmitted as autosomal dominant fashion clinical presentation is very unusual such as headache, abdominal pain, nausea, vomiting, constipation, polyuria, and polydipsia. Brown tumors are focal bone lesions encountered in patient with uncontrolled hyperparathyroidism. Overall diagnosis of th...

Introduction: Epilepsy is the most common neurological disorder that requires prolonged medication in children, with a prevalence of 0.5 to 1%. Carbamazepine is one of the most prescribed antiepileptic by neuropediatricians. The administration of carbamazepine is associated with decreased free thyroxine (FT4) levels being variable the relationship with thyrotropic hormone (TSH) values. When discontinuing therapy with carbamazepine, serum thyroid hormone levels...

Introduction: Thyroid cancer is the most common endocrine neoplasm in childhood: incidence 1.6/million children <15 years, with a progressive increase over time. They present as mostly benign thyroid nodules, but up to 25% may be malignant. Well-differentiated papillary carcinoma is the most frequent in the general population, but in prepubescents it presents in a more advanced and aggressive way than in the adult population. Poorly differentiated thyroid c...

Introduction: Graves’ disease (GD) is an immune-mediated thyrotoxicosis characterized by hypertrophy and hyperplasia of the thyroid follicles and accounts for 50-80% of all cases of pediatric hyperthyroidism. Thyroid nodularity is a common feature of GD, with an estimated prevalence of 25% – 53%. Thyroid nodules are less common among children than adults, being 20% malignant. The presence of GD and toxic nodular goiter is a rare finding, known as M...