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). ...

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...

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...

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

Objective: Monosomy 18q and 10p duplications rare chromosomal disorders that are caused by deletion of a part of the long arm (q) of chromosome 18 and duplication of genetic material on the short arm (P) of chromosome 10 respectively. In both disorders the phenotype is highly variable and; includes short stature, developmental delay, hypotonia, and facial dysmorphic features. Also, genital abnormalities could occur in both disorders. Genital abnormalities (cry...

Background: Both timing of menarche and growth patterns have changed with time (secular changes), highlighting the need of updated knowledge in this topic1. Questions how growth is related to menarche are common in pediatric/pediatric endocrine outpatient clinics. The QEPS-growth model makes it possible to conduct detailed analyses of pubertal growth2.Objective: To investigate the relationship betwe...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...