ESPE Abstracts

Oedema is a care complication of insulin therapy. It affects mainly patients with newly diagnosed type 1 diabetes mellitus, poorly controlled diabetes mellitus or patients on large doses of insulin. There are only a few case report showing that it is an uncommon and probably an under-reported complication. Two mecanisms are known: the sodium and water retention and vasoactive mediators release. The oedema tends to develop shortly after initiation of insulin therapy and resolve...

Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 0–1.18). Hydrocortisone was introduced immediately aft...

Introduction: Physicians often treat patients with high doses of vitamin D for various ailments and on occasion the prescribed doses far exceed the requirements of the patients. We present here two infants with vitamin D intoxication.Case presentation: A 6 month-girl child was brought to the hospital with complaints of persistent vomiting and refusal to feed. She was clinically dehydrated. She was administered 150.000 IU every day for 8 days. Serum calci...

Background: 5α-reductase-deficiency is an autosomal recessive disorder with clinical spectrum ranges from a male phenotype with hypospadias to a female phenotype. Many different mutations of SRD5A2 gene has been described in affected patients and clinical signs can vary depending on the degree of enzyme deficiency.Case presentation: 14-years-old girl admitted to our clinic because of feeling as a boy since 8-years-old. Parents were first degree cous...

Basal-bolus insulin therapy is currently, the most common treatment modality in children and adolescents with type 1 diabetes mellitus (T1DM) worldwide. Insulin glargine and detemir are two different molecules, produced with small modifications, of human insulin. In this prospective longitudinal study, we aimed to compare HbA1c, time in range in CGM, basal insulin doses and hypoglyccemia frequencies in children and adolescents with T1DM who underwent switching from insulin det...

Tricho-rhino-phalangeal syndrome Type I (TRPS I) is a rare autosomal dominant genetic disorder clinically characterized by craniofacial and skeletal abnormalities, associated with cone-shaped epiphyses, brachydactyly and short stature. Although patients with TRPS I present various degrees of short stature, there are only four reports of growth hormone deficiency in patients with TRPS I. We present the case of TRPS I and partial GH deficiency. A 15-year-old female was referred ...

Background: Bisphosphonate treatment for bone fragility has expanded beyond the children with osteogenesis imperfecta (OI) to those with other causes of low bone mass. Pamidronate is effective such as Paget’s disease, hypercalcaemia of malignancy, osteolytic bone metastasis, steroid-induced osteoporosis and idiopathic osteoporosis.Objective and hypotheses: The experience with bisphosphonates treatment other than OI in children is limited although th...

Background: Glucocorticoids are one of the most widely used drugs in clinical practice. Inappropriate use can result in secondary adrenal insufficiency. Adrenal insufficiency can be an occult cause of hypercalcaemia.Case presentation: A 3-months-old boy admitted for puffiness of the face, increase in weight. It was revealed that the patient was admitted to a hospital 2 months ago and was diagnosed to have congenital cataract and operated. The patient was...

Background: Premature pubarche (PP) is known to be a risk factor the development of metabolic syndrome (MS) and hyperandrogenism.Aims: To evaluate if glucose and insulin metabolism, cardiovascular risk factors and cardiovascular risk factors in family (FCVRF) create a risk for insulin resistance (IR) and if PP is a risk factor alone for MS and hyperandrogenism in normal weighted prepubertal PP girls.Methods: Prepubertal and non-obe...

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...