ESPE Abstracts

Background: The transcription factor Gli-similar 3 (Glis3) is predominantly expressed in the pancreas and it has a critical role in the development of insulin producing β-cells, thyroid and kidney. Mutations in GLIS3 is a rare cause of neonatal diabetes associated with congenital hypothyroidism, congenital glaucoma and polycystic kidney. We report a new case from consanguineous parents with homozygous novel mutation in GLIS3 gene.<p class="abstext"...

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: 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: Leydig cell hypoplasia (LCH) or agenesis, is an autosomal recessive condition and a well-defined form of 46,XY disorder of sex development (DSD) resulting from inadequate foetal testicular Leydig cell differentiation.Inactivating mutations in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene account for the underlying LCH pathogenicityCase report: We studied a 15-ye...

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...

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...