ESPE Abstracts

Background: Johanson-Blizzard syndrome (JBS) is a disease characterized by poor growth, variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, sensori-neural deafness, abnormal hair patterns or scalp defects, and oligodontia. Other features of JBS include pan-hypopituitarism, imperforate anus, and PI. Pancreatic endocrine insufficiency (PI).Case study: AM is a 10 years-old boy, born at term with aplasia of the alae nasi and cong...

Background: The honeymoon period of type 1 diabetes mellitus (DM1) is characterized by reduced insulin requirements to <0.5 Units/kg per day while maintaining good glycaemic control.Case study: Seven years old boy who was diagnosed with type 1 diabetes mellitus presented with history of polyuria, polydipsia and weight loss for 3 weeks duration. His random Blood glucose=408 mg/dl with initial HBA1C 12.7%. Family history was unremarkable for diabetes ...

Background: Growth hormone (GH) has been used for over 50 years to benefit both children with GH deficiency (GHD) and other forms of short stature as well as to correct the metabolic abnormalities found in adults with GHD (AGHD). Moreover, low IGF levels have been associated with the risk of diabetes, heart disease and osteoporosis. On the other hand, epidemiological studies suggest that high IGF-1 levels may be associated with cancer risk in the general population. Furthermor...

Background: Newborns admitted to the intensive care unit (ICU) are exposed to multiple painful and stressful procedures. It is postulated that high pain exposure in the first weeks of life can have a long-lasting impact on the hypothalamic-pituitary-adrenal (HPA) axis. Assessment of the salivary cortisol (SC) is a useful method for non-invasive monitoring of baseline activity and stress response of HPA axis.Objective: An...

Background: There exists no gold standard for adjustment of treatment in congenital adrenal hyperplasia. Clinicians try to avoid over-and undertreatment by considering various indicators. We aimed to investigate the sampling times of 17-hydroxyprogesterone (17-OHP) and the use of sex hormone-binding globulin (SHBG) as a monitoring parameter, the association of which was not studied with clinical features. Materials and Methods: This cross-sectional study inclu...

Background: Endogenous Cushing’s Syndrome (CS) is a rare disease in children, and corticotropin-independent forms are even scarcer. In childhood it carries a significant burden, resulting from both prolonged hypercortisolism long-term effects and treatment-associated morbidity.Case Report: A 23-month-old girl presented with irritability, central obesity with rapid weight gain and arrested linear growth, cushingoid facies with facial...

Introduction: Previous studies showed that non-obese children and adults with Prader-Willi syndrome (PWS) have a low frequency of metabolic syndrome (MetS), while obese ones have a frequency similar to that of non-PWS obese. It is known that individuals born small for gestational age (SGA) have a greater predisposition to the development of MetS. Recent neonatal percentiles of subjects with PWS (Salvatoni et al, Am J Med Genet Part A, 2019) documented...

Background: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain. This protein is located within the internal membrane of mitochondria. COX deficiency is an inherited mitochondrial disease associated with considerable genetic and clinical variability(1). In fact, four clinical subtypes of this condition have been identified, each one with several phenotypic and genetic variants. Mitochondrial complex IV deficiency nuclear type 4 is a rar...

Background: The 2018 international standards of care for DMD recommend initiating testosterone for management of delayed puberty commencing at a low dose, gradually increasing to adult replacement. No recommendations exist regarding longer term use of testosterone during transition and adulthood.Aim(s): To report long-term use of testosterone in DMD with outcomes of gonadal function and pubertal development in those who ...

Differences of sex development (DSD) are congenital conditions with discordance between chromosomal, gonadal and/or anatomic sex. DSD can be syndromic or non-syndromic based on the presence or absence of somatic anomalies, respectively. Variants in several genes have been identified in association with errors of testis determination and male genital differentiation. However, despite technological advances, a genetic diagnosis is not achieved in nearly 50% of individuals presen...