IMPE Abstracts

Introduction: Nephrogenic syndrome of inappropriate diuresis (NSIAD) is a rare X-linked genetic disease characterized by a gain-of-function mutation of the V2 receptor. Clinical presentation is similar to inappropriate secretion of ADH (SIADH) including euvolemic hyponatremia, decreased plasma osmolarity, and increased urinary osmolarity, but low or undetectable levels of antidiuretic hormone.Objective: To report a case ...

Thyroid cancer is rare in childhood accounting for 0–3% of all pediatric malignancies. Children with thyroid cancer demonstrate higher rates of cervical lymph node involvement and pulmonary metastases, the long-term outcome is rather favorable and mortality rate is low compared with adults. An increasing incidence of the disease has been observed in the last years. There is not enough evidence about the molecular mechanisms implicated and the correlation with prognosis a...

Background: IGF-1 receptor (IGF-1R) is widely expressed across many cell types in fetal and postnatal tissues. IGF-1R activation by IGF-1 and IGF-2 generates several responses including proliferation, and the protection of cells from apoptosis. Signaling through IGF-1R is the principal pathway responsible for somatic growth in fetal mammals, whereas in postnatal animals is achieved through synergistic interaction of growth hormone and the IGFs. IGF-1R gene mut...

Background: The role of Insulin-Like Growth Factor 1 (IGF1) in pre- and postnatal growth and brain development is widely recognized. It binds and activates its transmembrane receptor encoded by the IGF1R gene (15q26.3). Defects of IGF1R produces IGF1 resistance, characterized by pre- and postnatal growth retardation, microcephaly, and normal/elevated IGF1 serum levels, with great phenotypic variability.Aim: To e...

Introduction: The 46, XY complete gonadal dysgenesis (CGD) is characterized by the presence of a female phenotype and completely undeveloped gonads (streak). This entity is considered as high-risk condition for the development of gonadal germ cell cancer.Aim: to characterize the genetic etiology in a patient with 46, XY DSD and CGD.Case report: A 12-year-old girl was admitted by a ...

Background: Aldosterone synthase is a cytochrome P450 enzyme encoded by the CYP11B2 gene and responsible of the conversion of dehydrocorticosterone to aldosterone through three enzymatic steps: addition of the 11b-hydroxyl group to form corticosterone, 18-hydroxylation to form 18-hydroxycorticosterone, and 18-dehydrogenation to form aldosterone. Two types of aldosterone synthase deficiency have been reported: type I related to defects in 18-hydroxilation, and ...

Introduction: FHH is an autosomal dominant disorder caused by an inactivating mutation of the CaSR gene in two-thirds of cases. It is considered a "benign"and generally asymptomatic condition. On the other hand, GH and IGF1 stimulate renal synthesis of 1,25-hydroxyvitamin D and increase bone turnover.Case Report: We present a 9.8-year-old (y) male, referred for growth assessment. He was born at 36 weeks with no...

Background: Non-classic forms of Congenital Adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency are usually associated with variable degrees of postnatal androgen excess but adequate cortisol and aldosterone production. However, few studies have evaluated cortisol response.Aim: to describe the clinical, biochemical characteristics, and cortisol response to Corticotropin test in a cohort of patients with NCCAH st...

Differences of sex development (DSD) with asymmetrical overgrowth is a very rare condition that can be secondary to a chromosomal mosaicism (ChM). ChM is usually a post zygote event and arises when two or more cell lines with different chromosomal constitutions are present in the same individual. Usually distinctive methodologies approaches are required to reach the diagnosis. Our objective is to describe a patient with asymmetrical overgrowth and DSD and the methodological st...

Introduction: 3BHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In recessive loss-of-function HSD3B2 mutations, steroid flux is altered leading to a rare form of congenital adrenal hyperplasia (CAH) that compromise genital development in both, 46,XX and 46,XY individuals.Aim: To report the clinical and biochemical findings and the follow-up of patients with CAH secondary to 3BHSD2 deficiency confirmed ...