IMPE Abstracts

Aim: To characterize the patients with CS secondary to MAS followed in a single tertiary center of Argentina.Methods: Retrospective review of medical records of patients with clinical diagnosis of MAS followed between 1987- 2022. Clinical, biochemical, therapeutic interventions, histological features, and follow up were evaluated. Diagnosis of CS was based on clinical signs and either elevated urinary free cortisol and/o...

Background: Children born SGA/IUGR are at increased risk of long term endocrine-metabolic disorders. In addition, treatment with supra-physiological doses of rhGH in those without postnatal catch-up growth is associated with insulin resistance. However, studies evaluating glucose metabolism (GM) under rhGH treatment showed variable results.Objectives: To analyze GM in SGA/IUGR patients with short stature in basal conditions and under rhG...

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 ...

Growth is influenced by genetic, nutritional, environmental, and hormonal factors, but it proceeds in a remarkably predictable pattern characterized by a constant growth deceleration between childhood and adolescence, when the pubertal growth spurt occurs. This growth deceleration is coordinated in multiple tissues and organs in order to maintain body proportions. Growth hormone (GH)/ insulin-like growth factor type 1 (IGF1) axis and insulin are crucial stimulators of growth, ...

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...

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 ...

Background: 46,XX testicular/ovotesticular disorders of sexual development (T/OT DSD) are infrequent congenital conditions characterized by the presence of functional ovarian and testicular parenchyma or only testicular tissue in 46,XX individuals. Affected subjects present with different degrees of virilization of the external genitalia and development of Müllerian and Wolffian derivatives. Our knowledge about these conditions has been enlightened with t...