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: Permanent neonatal diabetes mellitus (PNDM) is a persistent hyperglycaemia diagnosed within the first 6 months of life. A correct genetic diagnosis can affect treatment and clinical outcome. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration and failure to thrive. Insulin production is inadequate, requiring exogenous insulin therapy. The treatment corrects the hyp...

Background: Continuous Glucose Monitoring (CGMS) is a useful method to detect the variability of glucose fluctuations and offers the opportunity for better assessment of glucose homeostasis in TM patients and response to therapy.Objective and hypotheses: Does real-life monitoring of blood glucose add to the therapeutic approach to patients with TM who have glycemic abnormalities?Method: In two thalassemic adolescents with glycemic ...

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...

Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is the most common cause of recurrent and persistent hypoglycemia in the neonatal period. Cortisol and GH play an important role as counterregulatory hormones during hypoglycemia. Both antagonize the peripheral effects of insulin and directly influence glucose metabolism.Patients and Methods: We studied cortisol and GH secretion in newborn infants with HH during spontaneous hypoglycemia....

Growth abnormalities at birth and abnormal postnatal pattern of weight gain have been reported in infants born to mothers with gestational diabetes (IDM). This study evaluated the growth pattern from birth to the age of 2 years of 60 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 60 IDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/...