ESPE Abstracts

Introduction: We refer to precocious puberty when signs of puberty appear early: before the age of 8 in females and before the age of 9.5 in males. The objective of our study is to evaluate the interest of the LHRH test in the exploration of early puberty.Materials and Methods: A retrospective descriptive study including 19 cases who presented with signs of precocious puberty. A clinical and hormonal evaluation was perfo...

Introduction: Precocious puberty is defined by the apparition of secondary sexual features before the age of 8 years in girls and 9.5 years in boys. Central precocious puberty (CPP) results from a premature activation of the hypothalamic-pituitary-gonadal axis. The aim of this study is to review the clinical, etiologic and therapeutic features of this entity.Patients and methods: It is a descriptive retrospective study including 7 patien...

Keywords: Short stature, Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome, genetic syndromesIntroduction: Short stature is one of the major components of dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. At present, GH therapy is used in most syndromic disorders, al...

Introduction: In medical practice, sex assignment at birth depends primarily on the appearance of the external genitalia, which development begins as early as the fetal period and is largely dependent on dihydrotestosterone (DHT). Any discordance between the chromosomal, gonadal or anatomical sexes can lead to a disorder of sex development (DSD). 5 alpha-reductase 2 (5aRD2) deficiency is a very uncommon autosomal recessive genetic disorder that falls into the DSD 46 XY group, ...