ESPE Abstracts

Background: Rogers syndrome or thiamine responsive megaloblastic anaemia (TRMA) with diabetes mellitus (DM) and deafness is an uncommon autosomal recessive disorder. We report the case of an eleven-month-old girl with TRMA.Case presentation: She was admitted to the hospital with paleness, hypotonia, diarrhoea and fever. She was born to first degree consanguineous Moroccan parents. Our patient medical history was relevant for hemolytic anaemia at the age ...

Background: Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with onset before 25 years. It is a heterogeneous disorder due to heterozygous monogenic mutations with an autosomal dominant transmission. It represents 2 to 5 percent of diabetes but is often underdiagnosed. We report three cases of MODY highlighting the features of different subtypes, two without associated abnormalities and one with renal disorder.Cases presentati...

Background: Several definitions of poor growth response to first-year GH treatment, have been proposed based on the observed response of a large group of patients.Objective and hypotheses: Since a complete compensation of the height deficit is expected in children with GH deficiency (GHD) treated with GH, we have studied the different parameters for the first-year growth response in relation to the adult height gain in prepubertal children with iGHD....

Background: In 2013, Abreu et al identified loss-of function mutation in the MKRN3 gene of fifteen patients from five families with idiopathic central precocious puberty (iCPP), highlighting the implication of this maternally imprinted gene in this still poorly understood condition. Since this study, other mutations have been described and now represent the most common genetic cause of iCPP.Objective: The objective of th...

Background/Aim: Several criteria for the first year growth response (FYGR) to growth hormone (GH) treatment have been proposed. We explored which FYGR criteria predict best the final height outcome after GH treatment in prepubertal children with GH deficiency (GHD).Methods: Height data of 129 GHD children (83 boys) treated with GH for at least 4 consecutive years with at least 1 year before pubertal onset, were retrieved...

Background: A combination of GH and a gonadotropin releasing hormone analogue (GnRH a) is hypothesized to improve adult height in children with a poor adult height prediction.Study design: In this multicenter study, 24 girls in early puberty (bone age ≤12.0 y),with a predicted adult height ≤151.0 cm and normal body proportions were treated with GH (Zomacton) 50 μg/kg per day and triptorelin (Gonapeptyl) 3.75 mg/month SC or IM (for 4 year...

Background: A combination of GH and a GnRH agonist is sometimes used to improve adult height in children with a poor height prediction, only few studies support this.Study design: In this multicenter study, 24 short girls in early puberty, with a bone age below 12.0 years, an adult height prediction below 151.0 cm and normal body proportions were treated with GH (Zomacton) transjections 50 μg/kg per day and triptorelin (Decapeptyl) i.m. (3.75 mg/mon...