ESPE Abstracts

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

Introduction: Hyperandrogenism is a common presenting complaint during the transition period; however, clinical, hormonal and metabolic parameters in these patients have not been yet adequately characterized.Objective: To evaluate the disease-related history, clinical presentation and biochemical parameters in patients diagnosed during this period with nonclassic congenital adrenal hyperplasia (NCCAH) due to 21α hydroxylase deficiency and patients w...

Background: Neonatal diabetes, diabetes diagnosed before six months of age, is rare, with incidence of approximately 1:90 000–160 000 live births. In approximately half of cases, neonatal diabetes istransient and usually resolves between 6 and 18 months of life. In the remainder of cases, the diabetes is permanent. Mutations in the GLI-similar 3 (Glis3) gene encoding the transcription factor GLIS3 are a rare cause of permanent neonatal diabetes and conge...

Background: Differentiated thyroid carcinoma has an incidence of 15.2 per 100 000 in adolescents. The clinical challenge is identifying nodules requiring further intervention. Current modalities, in isolation, have poor ability to reliably differentiate benign from malignant nodules.Objective and hypotheses: To derive and validate a predictive score that integrates clinical, laboratory, radiological and cytopathological parameters to define malignancy ri...

Background: The impact of prematurity on skeletal health later in life is not well elucidated.Objective and hypotheses: In order to address this topic we evaluated bone mass in ex-preterm (PT) and born at term (BT) prepubertal children and potential risk factors for bone health.Method: DXA measures of total body less head and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and z-score), bone mineral content (T...

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant le...

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...