ESPE Abstracts

Background: Estrogen insensitivity syndrome is a form of functional estrogen deficiency which is caused by a defect in the estrogen receptor type α (ESR1). As a result of the receptor mutation, estrogens cannot be recognized and hence initiate their biological action on pubertal growth, skeletal maturation, and accrual of bone mass. A mutation in the gene encoding ESR1 has been described in only 2 cases (one man and one woman). We now describe the first family with ESR1 m...

Background: The investigation of patients with 46,XY DSD is often difficult, with no definitive diagnosis in more than 50% of cases investigated. We describe a new mutation of MAMLD1 in a patient with 46,XY DSD who also showed an alteration in the NR5A1 gene.Case report: A 5-year-old boy was referred to our clinic for DSD. He was born to non-consanguineous parents and was diagnosed with ambiguous genitalia at birth but had not been previously investigate...

Background: The steroidogenic enzyme aromatase is encoded by the CYP19A1 gene. Aromatase activity is required for estrogen biosynthesis from androgen precursors in the ovary and several extragonadal tissues. The role of aromatase and thus estrogens for human biology is best illustrated by disease states, both deficiency and excess which might be caused by genetic disorders.Aim: A novel deletion-insertion mutation spanning from intron 10 to the 3...

Background: Disorders of sex development (DSD) are a group of rare conditions characterized by variable discordance between chromosomal, gonadal and phenotypic sex. An association between smallness-for-gestational age (SGA) and DSD is already recognised, but few studies have investigated this in detail.Aim of study: To evaluate the prevalence of SGA, among patients with DSD and to establish a correlation with the different types and causes of DSD.<p ...

Background: 46,XY DSD is a heterogeneous group of pathologies characterized by a wide spectrum of phenotypes and aetiologies. While advances in molecular genetics have permitted discovery of numerous genes implicated in testicular development, the diagnosis still remains uncertain for most patients with 46,XY DSD.Objective: To identify the aetiologies of 46,XY DSD in Algerian patients.Methods: We conducted a multicentre prospective...

Background: The i.v. GnRH test remains the gold standard for the diagnosis of central precocious puberty (CPP). Unfortunately however, GnRH is expensive and is not available worldwide. GnRH analogues have been used as an alternative, but their place is not established, while very few studies have compared between the two tests.Objective: To compare the effects of GnRH and Triptorelin on gonadotrophin secretion in patients with sexual precocity and hence ...

Turner syndrome (TS) is the most common genetic disorder occurring in 1 / 2500 live-borne girls. It’s characterized by complete or partial loos of one X chromosome associated with short stature and premature ovarian failure. Morbimortality are increased in TS and related to cardiovascular (CV) disease. The aim of this study was to investigate the karyotypes and the phenotypes of a paediatric population with Turner Syndrome.Methods:...