ESPE Abstracts

Background: Transverse Myelitis (TM) is an auto-immune syndrome with neural injury to the spinal cord. The TM may be first clinical manifestation of Multiple Sclerosis (MS). It is known that Turner’s Syndrome (TS) is associated to the presence of autoimmune diseases.Case Report: A 15-year old female, began with manifestations of loss of strength on the lower limbs evolving rapidly with sensorial loss, tetraparesis and hemodynamic instability, requir...

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...

Introduction: The ideal TSH filter value (TSHf) in the neonatal screening tests for Congenital hypothyroidism (CH) is worldwide controversial. Local cutoff point of TSHf was 9.0 mIU/L until recently. OBJECTIVE: To evaluate the clinical and laboratory characteristics of newborns with CH (confirmatory serum TSH > 10 mIU/L) after a lower TSH cutoff. METHODS: Cross-sectional study using data from Neonatal Screening Reference Center of State Rio Grande do Sul, ...

Congenital adrenal hyperplasia is an autosomal recessive inborn error of metabolism due to impaired activity of one enzyme required for cortisol biosynthesis. Steroid 21-hydroxylase (21OH) deficiency is the cause in more than 90% of the patients. The 21OH is encoded by the CYP21A2 gene located on the chromosome 6 in the region known as the RCCX module. Due to the high homology and tandem-repeat organization of the RCCX module, this region of the genome is subjected to...

Background: Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in aetiology. One known form associated to steroid biosynthesis impairment is the Antley-Bixler Syndrome (ABS). ABS-phenotype and normal steroidogenesis have FGFR mutations, whereas those with ambiguous genitalia and altered steroidogenes should be recognized as possibly having P450 oxidoreductase deficiency, with mild do moderate 17 OH progesterone (17HOP) elevation ...

Background: The contribution of mutations in paired box domain (PAX8) gene in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) still remains a subject of interest of researchers. While quantitative PCR and direct sequencing concentrate on single gene fragment analysis and identification of point mutations, multiplex ligation-dependent probe amplification (MLPA) analysis might improve the detection rate of PAX8 mutations in patients wit...

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...

Background: Familial growth hormone deficiency (GHD) with an autosomal dominant inheritance pattern (isolated GHD type II) due to multiple different mutations in the GH1 gene have been described.Objective and hypotheses: Describe the clinical characteristics and mutation analysis of affected individuals in a family with growth hormone deficiency inherited in an autosomal dominant pattern.Method: Medical record review.<p class="...