ESPE Abstracts

Background: Adrenal hypoplasia congenital associated with DAX-1 (NROB1) gene mutations is a rare cause of primary adrenal insufficiency in male. It can be presented as a part of Xp21 contiguous gene deletion syndrome which characterized by complex glycerol kinase deficiency (GK), adrenal hypoplasia congenital (NROB1), intellectual disability (IL1RAPL1) and/or Duchenne muscular dystrophy (DMD).Case report: We report a 6-month-old male infant, which presen...

Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataract, patent ductus arteriosus, hearing loss, microcephaly, thrombocytopenia and severe fetal injury. It has been shown that type 1 diabetes mellitus develops in 12–20% of patients with congenital rubella infection and disorder in oral glucose tolerance test is observed in 40%. A 13-year-old male patient presented with complaints of new-onset polydipsia, urinatio...

Background: Chronic, autoimmune thyroid diseases are sometimes combined with autoimmune hematologic diseases, such as pernicious anemia, autoimmune hemolytic anemia (AIHA) and idiopathic thrombocytopenic purpura (ITP). Hashimoto thyroiditis is one of the most common autoimmune diseases.Case report: seventeen years old female adolescent complaining of delayed puberty and short stature. She is a known case of autoimmune hemolytic anemia diagnosed at age of...

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

Background: Premature ovarian failure (POF) is uncommon in pediatrics and when occurs during the adolescence is typically iatrogenic or due to chromosomal anomaly. Also many genes have been identified that contribute to the development of POF, and most of these mutations are extremely rare.Objective: We describe a case of 15 years old female presented short stature and secondary amenorrhea, after a normal puberty but without peak height velocity. She was...

Background: Kocher-Debre Semelaigne syndrome (KDSS) is a rare form of myopathy in patients with longstanding moderate-to-severe hypothyroidism.Objective and hypotheses: We present the case of 7-year-old boy who developed muscular pseudohypertrophy, associated with long-term untreated hypothyroidism.Method: A 7-year-old boy presented with growth failure, lassitude and lethargy. He was born small for gestational age at 28 weeks gesta...

Introduction: The Insulin Autoimmune Syndrome (IAS or Hirata Disease) is rare among children. Non-ketotic hyperinsulinaemic hypoglycemia and the presence of insulin auto-antibody (IAA) are the conditions to diagnose the syndrome. The occurrence of hypoglycemia is due to the binding of the antibody to the insulin molecule at the immediate postprandial, followed by this binomial dissociation, which releases free insulin on serum and triggers symptomatic hypoglycaemia.<p clas...

Background: Cholestatic hepatopathy is a rare but serious threat to neonates and young infants. Their immature hepatic excretory function predisposes for severe and rapidly progressive hepatic injury. Because of the wide range of possible etiologies, it is often difficult to make an accurate diagnosis. One rare endocrine cause can be primary or secondary hypocortisolism.Case presentation: i) A 7-week-old term-born female with cholestasis, elevated liver ...

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

Objective: determination of changes in metabolic status and osteoprotegerin concentrations in obese children.Methods: We examined 120 children in the University Hospital (Minsk) from 2017 to 2019 yrs. Their anthropometric parameters (height, weight, body mass index (BMI)) were determined. Blood levels of osteoprotegerin (OPG), insulin were determined. In the biochemical blood test, the parameters of uric acid, insulin we...