IMPE Abstracts

Introduction: Cytochrome P450 oxidoreductase (POR) acts as a redox partner of all microsomal cytochrome P450s which metabolize drugs and steroid hormones. Mutations in POR cause congenital adrenal hyperplasia (CAH) and/or disorders of sexual development (DSD) due to defective biosynthesis of steroid hormones in the adrenal and gonads, and affect the hepatic metabolism of drugs. The variant V631I was previously identified only in healthy heterozygous carriers. ...

Introduction: Treatment in transgender girls can consist of puberty suppression with GnRH analogues (GnRHa) followed by estrogen treatment. A decrease in bone mineral density (BMD) Z-scores is a known effect of GnRHa. After initiation of estradiol, BMD Z-scores remain relatively low, even after several years of treatment. It has been hypothesized that the estradiol dosage may be insufficient, explaining the persistently low Z-scores. Some trans girls are treat...

Introduction: Face2Gene (FDNA Inc., Boston, MA) is a web application for artificial intelligence-driven facial phenotyping, providing a list of the top thirty candidate syndromes based on gestalts from two-dimensional facial images of patients. Although the effectiveness of Face2Gene for the diagnosis of congenital syndromic disorders has been reported mainly in Caucasian populations, the sensitivities for syndromic endocrine-related disorders and the performa...

Introduction: Over-production of androgens is linked to prostate cancer (PCa) in men and polycystic ovary syndrome (PCOS) in women. CYP17A1 produces dehydroepiandrosterone (DHEA), the precursor for androgens, via its 17,20 lyase activity. CYP17A1 lyase activity is regulated by the amount of P450 reductase for electron transfer; the presence of cytochrome b5; and protein phosphorylation. High androgen levels were linked to the phosphorylation of CYP17A1 protein...

Introduction: Pediatric hypercalcemia is a rare condition. It occurs due to an imbalance between the endocrine system (PTH, calcitriol) and its target organs (bone, kidney and intestine). It is produced by multiple causes. Although it is usually asymptomatic, sometimes it could become an emergency, with increased morbidity and/or mortality.Objective: To describe etiologies, biochemical profiles, clinical characteristics ...

Impairment of body water and electrolytes homeostasis are frequently observed in pre and post-surgical patients with central nervous system tumors. Central diabetes insipidus (CDI) and the Syndrome of inadequate secretion of antidiuretic hormone represent the most frequently recognized entities with dysnaetremia. However, concomitant cerebral salt wasting syndrome (CSWS), with the characteristic triad of polyuria, hyponaetremia and natriuresis, might challenge the diagnostic s...

Introduction: Type 2 diabetes (T2D) is increasing among adolescents and is associated with suboptimal mental health. Diabetes-specific distress (DD) is common in adolescents with Type 1 diabetes but there is limited data in adolescents with T2D. Additionally, data in relation to how clinicians can better support the emotional wellbeing and engage adolescents with T2D is limited to Indigenous adolescents.Aims: To evaluate...

Objective: Identify the factors association with the serum level of RIAO (real IAPP amyloid oligomers) <3.02 μg/ml at the diagnosis of the DM2 as a predictor of development of chronic complications in children and adolescents.Type of study: Historical cohort, observational, longitudinal, futurology, comparative,Materials and methods: The DM2 patients with determinations of RI...

Background: Neuregulin-4 (Nrg4), a recently identified adipokine, has been found in multiple organs, in particular brown adipose tissue. Lower Nrg4 levels have been associated with obesity, insulin resistance, impaired glucose tolerance and type 2 diabetes mellitus (T2DM). Metformin is widely utilized for treatment of T2DM due to its ability to improve glycemic control. It has shown some potential in preclinical studies to improve diabetic nephropathy, decreas...

Introduction: Diabetes represents a heterogeneous group of metabolic disorders, and monogenic diabetes is thought to affect 1- 5% of the pediatric diabetes population. Monogenic diabetes, typically presenting without autoimmune antibodies, causes neonatal diabetes, maturity-onset diabetes of the young (MODY), and syndromic diabetes. The study aimed to gain insight into the gene regulation pathways altered in MODY diabetes following a meal.<p class="abstext...