ESPE Abstracts

Introduction: Recombinant growth hormone (GH) is an effective treatment for short children who are born small for gestational age (SGA). Short children born SGA who fail to demonstrate catch-up growth by 2-4 years of age are candidates for GH treatment initiated to achieve catch-up growth to a normal height in early childhood, maintain a normal height gain throughout childhood, and achieve an adult height within the normal target range. However, some children ...

Objectives: To assess the long-term effect of growth hormone (GH) therapy in children with Turner Syndrome (TS)Patients and methods: We evaluated retrospectively the anthropometric data of 10 girls with TS short children (height SDS <-2) who were diagnosed and treated with GH (0.05 mg/kg/day) between January 2007 till 2018 in our tertiary care center. Before and during GH treatment, auxological and biochemical parameters including He...

Background: Obesity is highly prevalent worldwide, particularly in the MENA region. Whilst simple obesity has a variable genetic and environmental basis, syndromic and non-syndromic monogenic obesity has a strong genetic component. Melanocortin 4 receptor (MC4R) mutations are the commonest cause of monogenic obesity. MC4R also regulates neuropathic pain pathways via JNK signaling after nerve injury.Methods: Five children...

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...

Background: Turner syndrome (TS) is a common genetic disorder with an incidence of 1 in 2500 live births due to chromosomal errors resulting in monosomy for the X chromosome with or without mosaicism. Familial TS has been rarely reported. We report two families having TS.Methods: We report 6 patients with TS who had been referred to the Endocrinology department and Pediatric department at Hedi Chaker hospital, Sfax, Tuni...

Introduction: Perrault syndrome (PS) is a rare disease characterized by a premature ovarian failure (with primary or secondary amenorrhea) and a sensorineural deafness. In this context we report the case of two sisters issuing from consanguineous parents presenting the association of these two anomalies.Cases: The reason for consultation was primary amenorrhea in both cases at age 16 and 21 years respectively, on examina...

Introduction: Allgrove syndrome is a genetic disorder of autosomal recessive inheritance associating in its complete form: Esophageal achalasia; alacrymia and adrenal insufficiency. This is generally an adreno-corticotropic hormone (ACTH) resistant. In this context we report the case of a patient followed in the endocrinology department.Case: This is the case of a boy who comes from a consanguineous marriage, with family...

Introduction: Congenital growth hormone deficiency (GHD) is a non-exceptional cause of short stature. The objective of our study is to re-evaluate the clinical, biochemical, and evolutive features of congenital GHD in Tunisian south in adulthood.Subjects/Methods: We underwent a retrospective study of 48 patients over 16 years old affected by GHD over 28 years (1990- 2018).Resultats...

Introduction: Early puberty is defined in the girl by the appearance of secondary sexual characteristics before the age of 8 years. Unlike the boy, the central origin is most often idiopathic. The familial nature encourages looking for a genetic mutation which can explain this early maturation of the gonadotropic axis.Cases: These are three girls from a consanguineous marriage. They had no particular pathological anteced...