ESPE Abstracts

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

Introduction: Peripheral or gonadotropin-independent PP is due to the production of sex steroids by gonadal or adrenal tissues independently of gonadotropins (which are usually suppressed). Peripheral PP may result from gonadal, adrenal or hCG-producing tumors (in boys) and exposure to exogenous sex steroids. Peripheral PP may rarely lead to activation of pulsatile GnRH secretion and PPC due to prolonged priming of the HPG axis. The pattern of pubertal develop...

Introduction: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder defined by craniofacial, ectodermal and skeletal involvement.Materials and Methods: She is a girl aged 07 years, the second in a sibling of 4 from a non-consanguineous couple. Physiological antecedents, full term birth with a low birth weight of 02 Kg, artificial breastfeeding from birth, good pshycomotor development with a ...

Introduction: Growth is a fundamental process in childhood, and growth disorders remain one of the most common reasons for referral to a paediatric endocrinologist. The GH-IGF1 axis plays a major role in the growth phase of childhood, with an important role alongside sex steroids during puberty, while during infancy thyroid hormones and nutrition are vital. Although a rare cause of short stature, GH-IGF1 axis disorders are extremely important because of the ef...

Introduction: The association of multisystem pathologic conditions and epidermal nevi, known as the epidermal nevus syndrome, includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, and skin. Rarely hypophosphatemic trickets has been observed in association with this syndrome. Precocious puberty is another rare finding associated with epidermal nevus syndrome, having been observed in 1 patient.<strong...

Background: The pycnodysostose is a genetic lysosomal disease wich is characterized by a ostéosclérose of the skeleton, a small and an osseous brittleness. The pycnodysostose is very rare, its exact prevalence is unknown but it is lower than 1/100,000. The disease is discovered at a variable age, has going from 9 months to 50 years. Transmitted according to a recessive autosomic mode of to a deficit in cathepsine K enzyme which plays a central role in the osseous res...

Background: The syndrome of Taybi-Linder (TALS) or paramount dwarfism microcephalic of type 1 (MOPD1) is an uncommon illness characterized by an intra-uterine delay of growth, multiple malformations (short members, facial dysmorphie) and especially of the cerebral abnormalities. The infants carrying this disease can live until the age from 2 to 3 years and, often at the time of an infection, their state worsens quickly in a few hours (conscience disorder, convulsions) until th...