ESPE Abstracts

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: Growth failure has long been cited as the main endocrine complication of cystic fibrosis. But with the therapeutic advances, this retardation is less observed; however, access to these therapies is not the same in all countries.Objective: To evaluate the influence of respiratory physiotherapy on growth in patients with cystic fibrosis outside in childrens from the age of 8 years "the beginning of childre...

The rare co-occurrence of pseudohypoparathyroidism (PHP) and Turner syndrome (TS) is few documented in medical literature. Turner syndrome manifestations often overlap with those encountered in patients with PHP, further complicating the diagnostic process, particularly in atypical presentations. This poster aims to report the case of an individual with PHP and Turner syndrome. We describe the case of an 11-month-old female, who was referred to our hospital due to dysmorphic f...

Amenorrhea constitutes one of the primary reasons for consultation in reproductive medicine. Amenorrhea in adolescents can be either primary or secondary.Clinical Observation: She is a 16-year-old girl, born of a second-degree consanguineous marriage, the eldest of 2living siblings, She presents with primary amenorrhea. A aunt, aged 40, also presents with the same unexplored issue. The illness history dates back a year following primary ...

Background: Graves' disease is a rare autoimmune disorder in children. Its incidence is 0.1/100,000 person-years in young children and 3/100,000 person-years in adolescents. It is related to the production of TSH-stimulating autoantibodies occurring on a particular genetic predisposition. The particularity of Graves' disease in children is the risk of relapse after medical treatment, which is more frequent than in adults with a frequency of around 30...

Background: If in European and American countries we have very clear statistics about growth in Cystic fibrosis (CF). It is not the same in the majority of African countries because it has long been considered as a very rare pathology there. Actually without newborn screening; CF is under-diagnosed and given the fatal nature of the disease, many patients are lost.Objective: describe the anthropometric parameters of infan...

Introduction: The transition period between childhood and adulthood in patients with growth hormone deficiency is a vulnerable period during the follow-up. Different consensuses have established follow-up and reassessment protocols for this period in order to clarify whether GHD persists. The benefits of maintaining treatment during this period are widely documented on the metabolic, vascular, bone and in terms of quality of life and well-being.<p class="a...

Background: Septo-optic dysplasia (SOD) is a congenital affection characterized by classic triade: optic nerve hypoplasia, hypothalamic-pituitary endocrine deficits and mdline abnormalities of the brain. It is typically diagnosed in infancy and has a variable presentation.Case presentation: The patient is an 5 year old Algerian girl. At birth, bilateral congenital nystagmus and strabism was noted? Right blindness was suspected by parents at age of 2 year...

Background: Kenny-Caffey syndrome type 1 is a rare autosomal recessive syndrome caused by mutation in the TBCE gene (Tubulin specific chaperone E) located in the chromosome region 1q42-q43. Less than 60 cases have been reported in the literature especially in the Middle East and Arabic countries. This syndrome is characterized by growth retardation, dysmorphic features, with thickened bone cortex and medullary stenosis, hypoparathyroidism, teeth anomalies. Hypopituitarism with...

Background: Turner syndrome (TS) is a genetic syndrome caused by complete or partial absence of an X chromosome. It is the most common diagnosed sex chromosome abnormality in women, affecting 1/2000–2500 female live births.Objective and hypotheses: To determine to establish the clinical, hormonal, cytogenetic, and evolutive pattern of children with TS and to establish for correlations between genotype and phenotype.Method: We ...