ESPE Abstracts

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, the main aims of treatment are to prevent adrenal crisis and to achieve normal stature, optimal adult height and to undergo normal puberty. In adults, the aims of treatment are to prevent adrenal crisis, ensure normal fertility and to avoid long-term consequences of glucocorticoid use. Current treatment regimens for CAH with glucocort...

Background: Severe primary deficiency of insulin-like growth factor-1 (IGFD) being characterized by growth failure and short stature in children, constitutes an indication to recombinant human IGF-1 (mecasermin) treatment. It is defined by serum insulin-like-growth factor-1 (IGF-1) levels less than or equal to 2.5 th percentile, height less than or equal to −3 S.D.S., normal growth hormone (GH) secretion and exlusion of secondary causes of IGFD.<p clas...

Background: The MAMLD1 gene (Xp28) is thought to cause disorder of sex development (DSD) in 46, XY patients, mostly presenting with hypospadias, and, recently, also gonadal dysgenesis. However, there is some controversy about the role of MAMLD1 in sex development because i) some MAMLD1 variants are also detected in normal individuals, ii) others are not present in all affected DSD individuals of the same family; iii) several MAMLD1 mutations...

Background: Short stature homeobox (SHOX)-related haploinsufficiency is associated with a wide clinical variability, all characterized by growth failure with or without mesomelia and/or Madelung deformity. In patients, the effect of GH therapy on final height is comparable to the effect that can be obtained in Turner syndrome. The majority of the patients with SHOX-related haploinsufficiency disorder have deletions of varying sizes in SHOX. Point mutations in SHOX account for ...

Introduction: Data on BP in children with classic congenital adrenal hyperplasia (CAH) is inconsistent.Aim: To assess the trend in BP throughout childhood using data from the International CAH registry and compare this to normative data from the American Academy of Paediatrics (AAP).Method: This retrospective multi-centre study included 37 centres from 20 countries. BP data was ana...

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...