ESPE Abstracts

Background: Because of episodic secretion of gonadotropins (LH, and FSH), basal levels of these hormones can not objectively be assessed to differentiate delayed puberty in males.Objective and hypotheses: To assess the efficacy of the GnRH agonist (as spray) in diagnosing of delayed puberty in males.Method: Prepubertal males (n=18; age range 13.3–18.5 years) were studied; buserelin 0.15 (spray) μg was administere...

Background: Diabetic ketoacidosis (DKA) is a medical emergency. The most physiologic fluid/electrolytes replacement rates and insulin dosis are still controversial.Objective and hypotheses: To evaluate the effectiveness and security of DKA treatment. Our protocol consists of 2 h’ rehydration with 0.9% sodium chloride (NaCl), followed by insulin infusion (0.1 U/kg per h) associated to 0.45% NaCl with 5% glucose. Potassium is replaced with monophospha...

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

Introduction: Vitamin D-dependent rickets type I (OMIM # 264700) is a rare autosomical recessive disorder that affects vitamin-D metabolism characterized by severe hypocalcaemia with moderate hypophosphatemia. The most common form is type IA, caused by the mutation of gene coding for 1-alpha-hydroxylase (CYP27B1OMIM * 609506. 12q14) that converts the 25-OH-vitaminD in 1,25-OH-vitaminD.Case report: A 2.3 years female with...

Introduction: Thyroid diseases are among the most common endocrine disorders affecting children and adolescents. These conditions are often associated with a wide range of skin disorders such as xerosis, mixedema, hypohidrosis, eczema, and more rarely hypertrichosis.Case: A 5-year-old female child was referred to our clinic due to short stature, Cushingoid appearance and marked hypertrichosis. At birth length and weight ...

Cushing’s disease (CD) is defined as hypercortisolism secondary to an adrenocorticotropin (ACTH) secreting pituitary adenoma. It is rare in the pediatric age and early diagnosis and treatment are important to prevent long-term complications. In the diagnostic workup, bilateral inferior petrosal sinus sampling (BIPSS) of ACTH after corticotropin-releasing hormone (CRH) stimulation is the gold standard in the differential diagnosis of ACTH-dependent hypercortisolism. We re...

Context: Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. The estimated prevalence is less than 1/1,000,000 live births. Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce.Objective: We aimed...

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

Background: The Topicon™ patch is a needle-free novel platform technology developed to achieve truly passive transdermal delivery of insulin. Here we report pharmacodynamic (PD) and pharmacokinetic (PK) studies comparing needle injection (s.c.) vs Topicon™ mediated patch delivery of the insulin analog glargine (LANTUS®) in streptozotocin-induced hairless rats.Objective and hypotheses: We sought to develop a convenient, af...

Background and Objectives: In adults, discordant associations exist between insulin-like growth factor-I (IGF-I) and blood pressure with scarce reports in apparently healthy children. IGF-I levels increase during puberty in parallel to calcium and phosphorus levels. In this context, our aim is to study the association between IGF-I and blood pressure in apparently healthy children, together with the interaction of the serum calcium-phosphorus product (Ca*P...