ESPE Abstracts

Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.Case:We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the d...

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...

Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulth...

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...

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...

Introduction: Sexual disorders 46 XY are responsible for a range of phenotypic disorders; from an ambiguous phenotype to a complete female phenotype. This is often a sporadic condition. In this context, we report 5 cases of gonadal dysgenesis, 46 XY belonging to the same family and particular phenotypic expression. this particular phenotype arise a question about the link between familial sexual differenciation disorders and the panel of genes involved in sexu...