IMPE Abstracts

Introduction: MODY is a heterogeneous group of monogenic disorders that occurs due to β cell dysfunction. The estimated MODY prevalence is around 1–5% of all diabetes mellitus cases, but it varies depending on the population studied. MODY2 is caused by heterozygous inactivating mutations in the glucokinase (GCK) gene loci 7p13. That result in persistent, stable and mild fasting hyperglycemia, glycosylated hemoglobin alterations. Patients with GCK mu...

Introduction: Gender preference is increasingly more common in our society and in medical general practices. This makes necessary for current and future medical professionals to have up to date, non-biased information so that they can assist transitioning patients with their physical and mental wellbeing.Objective: To explore knowledge and opinions of future medical professionals about transsexuality, and the evolution a...

Introduction: Maternal Graves' disease (GD) is the most common cause of neonatal hyperthyroidism. Which by definition is transient and self-limited. There is also an infrequent cause of non-autoimmune persistent neonatal hyperthyroidism due to activating mutations in the TRH receptor (TSHR), both familial (FNAH) and sporadic (PSNAH), or to Protein G Mutation (Macune Albright Syndrome (GNAS). Neonatal screening for thyroid disease focuses on prevention of ...

A 37 wk of gestation newborn male from a mother with Gestational diabetes also IUGR, consanguineous parents, with persistent glucose levels around 425 mg/dl since his second postnatal day of life with Birth weight of 1640 grams (SD -4.4) and Birth length 41 centimeters (SD -4.6). A diagnosis of Neonatal Diabetes was made and initially he was treated with intravenous insulin to later be switched to SC insulin, basal-prandial therapy analogues (Lispro 0.5 IU if glucose >250 m...

Introduction: The prenatal diagnosis of fetal goiter is made by ultrasonography (US). Occasionally, clinical history and US findings may lead to the presumptive diagnosis of fetal hyper or hypothyroidism. Although, the dosage of thyroid hormones in fetal blood may exceptionally be necessary.Objective: To report the prenatal treatment and postnatal evolution of a child with fetal goiter.Pren...

BLSS, male, second child of young, healthy, non-consanguineous parents, no family history of comorbidities. He was born by cesarean delivery due to polyhydramnios, 41 weeks of gestational age, with adequate weight and length. Apgar 7/9. Identified at birth micropenis: 1.5cm, bilateral auricular pit, sacral pit and 2mm atrial septal defect. At 4 days of life, he presented persistent neonatal jaundice (indirect bilirubin: 16.6mg/dL, direct bilirubin: 0.6mg/dL) and hypoglycemia (...

Introduction: The prevalence of vitiligo in the general population is 0.5 to 1%. Children under 12 years represent 23% of the patients with vitiligo. The most common type of vitiligo (85% of total) is the non-segmental. The prevalence of autoimmune thyroid disease in patients with non-segmental vitiligo is greater than the one reported in the general population. Hypothyroidism is the most common disorder seen in children with non-segmental vitiligo. Early diag...

Introduction: The IHH gene (Indian hedgehog) is predominantly expressed in the developing skeleton. It encodes a protein produced by chondrocytes and involved in the IHH signaling pathway of paracrine cartilage growth factors (1). This protein, together with the PTHrP (parathyroid hormone-related protein) system, coordinates the proliferation and hypertrophy of chondrocytes (1). Inactivation of the IHH in humans causes numerous skeletal chondrodysplasias, incl...

Familial hyperchylomicronemia is an autosomal recessive disorder, most often caused by mutation of the LPL gene, located on chromosome 8p22. It is characterized by severe hypertriglyceridemia secondary to chylomicron accumulation: in the absence of lipoprotein lipase (LPL) the hydrolysis of triglycerides is reduced as well as and their release into cells. It is a rare condition with an estimated incidence of 1:500,000 to 1:1,000,000 cases.Case re...

Case presentation: A 17-year-old female patient with non-consanguineous parents. She was born at 39 weeks, with normal weight and height for gestational age, with nasal agenesis and bilateral microphthalmia. She consulted pediatric endocrinology for delayed puberty, with adequate neurodevelopment. Laboratory tests revealed hypogonadotrophic hypogonadism and significant delay in bone age. Table 1. Brain resonance revealed arrhinic choanal atresia, absence of ol...