ESPE Abstracts

Background: Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is a rare autosomal recessive disorder, characterized by sexual infantilism, amenorrhoea, hypertension and hypokalemia,which is caused by CYP17A1 gene mutations.Objective and hypotheses: To provide a descriptive analysis of 17α-hydroxylase deficiency in two female siblings with different karyotype of 46, XX and 46, XY.Method: The clinical feature...

From time to time pediatric endocrinologists may be confronted with paradoxical constellations. Here, we report on a 13-year-old boy with type-1 diabetes. He had polyuria and polydipsia for the previous 2 weeks. Three days before presentation, he got increasingly exhausted and developed recurrent vomiting. At presentation his weight was 41,4 kg (P 25-50) and his height was 154 cm (P 25-50). Initial labs were HbA1c 10.2%, glucose 530 mg/dl, pH 7.15, base excess - 21.1 mmol/l, b...

Introduction: Complications are frequently reported post hypospadias repair and there is a need to understand the factors that influence their occurrence.Aim: The aim of this study was to identify the occurrence of complications in boys with hypospadias that are in the I-DSD Registry.Methods: Data from boys born with hypospadias between 2010-2020 were obtained from the I-DSD regist...

Introduction: Human newborn(NWB) respiratory derangements may be concomitant to oral/enteral caloric intake (KOE) insufficiency. We evidenced a possible involvement of axillary temperature(TEMP) in relationships between preterm birth (PTB) and blood serum Insulin-like Growth Factor-I(IG1) in NWBs. Here we evaluate the TEMP-independent role of birth gestational age(GA) and KOE in relations of O2 supplementation in respiratory gases(O2S) to IG1 in the not-life-t...

Objective: The systemic form pseudohypoaldosteronism type 1 (PHA1) is an autosomal recessive disorder characterized with defective sodium transport in many organ systems including kidney, lungs, colon, sweat glands and salivary glands. Homozygous or compound heterozygous loss-of-function mutations in the genes encoding amiloride sensitive epithelial sodium channel (ENaC) account for genetic causes of systemic PHA1.Case 1: Male patient presented with vomi...

Background: Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. Earlier and proper treatment is associated with better intellectual outcomes.Objective and hypotheses: The aim of the present study was to evaluate intellectual outcome of children with diagnosed congenital hypothyroidism (CH) and early onset treatment.Method: We retrospectively reviewed the medical record of 43 childre...

Background: DAX-1 mutation is a rare genetic cause of adrenal insufficiency also causing hypogonadotropic hypogonadism.Case presentation: The patient was born to a G1P1 mother. At the age of 1 month he developed acidosis, hyponatremia, hyperkalemia, diagnosed with congenital adrenal hyperplasia and started on hydrocortisone and fludrocortisone. No CYP 21 mutation was identified, fludrocortisone was continued for presumed hypoaldosteronism, hydrocortisone...

Objectives: -To determine children diagnosed with central congenital hypothyroidism (CCH) by a screening program using TSH and total T4 between May 2016 and January 2019.-To analyze the characteristics of the disease in these children.Material and Methods: During the time of the study, 14.743 newborns have been screened. Cut-off points are used for TSH ≥10MU/ml and T4 6 and 20 mg/dl as lower ...

Introduction: Preterm delivery may comport blood serum Insulin-like Growth Factor-I (IG1) decrements and lower body temperature during the first days of postnatal life of the human newborn (NWB). We evaluated the role of preterm delivery in associations between axillary temperature (TEMP) and IG1 in NWBs without life-threatening disease.Methods: NWBs with any among total parenteral nutrition, blood transfusion, therapeutic hypothermia, life-threatening d...

Objective and hypotheses: To establish clinical, laboratory peculiarities of manifestation, short-term effects of performance of hormonotherapy children with CACH.Method: We examined 32 children with CACH (29 children – with salt-losing form (SLF) (boys/girls=18/11), 3 – virile form (VF) (boy/girls=1/2)) in onset and after 1 year of therapy. Weight and growth dynamics, parameters of potassium (K), sodium (Na), glucose, adrenocorticotropic hormo...