ESPE Abstracts

Background: Dysfunction of the parathyroid gland is a rare cause of hypocalcaemia. It may be caused by a deficiency or resistance to PTH. Generally symptomatic It can be hereditary, congenital or acquired.Objective and hypotheses: Analysis of clinical, paraclinical, etiological and progressive children’s and adolescents hypocalcaemia by parathyroid dysfunction.Method: This is a retrospective study of hypocalcaemia by parathyro...

Background: The commonest cause of 46, XX disorders of sex development (DSD) is congenital adrenal hyperplasia (CAH). We report two female virilised siblings with uncontrolled CAH who were reared as boys since birth. Different team members were involved in management. We discuss here gender reassignment and the psychosocial implications from Islamic perspectives.Case reports: An eight and 11 years old severely virilised CAH Yemeni girls were raised as bo...

Background: The hyperandrogenism in the teenager is a frequent reason for consultation. It poses diagnostic problems and sometimes therapeutic ones.Objective and hypotheses: Search of the incidence and aetiology of hyperandrogenism in children and adolescent.Method: This is a retrospective study of patients hospitalized for exploration of hyperandrogenism. 14 patients was for collected, all underwent to a profound clinical examinat...

Background: Glucose is the main energy source for the brain’s cells. Glucose transporter 1 (GLUT1), encoded by the SLC2A1 gene, is a membrane protein that plays an essential role in the transport of glucose across the blood-brain barrier. A mutation in GLUT1, so-called GLUT1 deficiency syndrome (GLUT1 DS; OMIM #606777), results in low levels of glucose in the cerebrospinal fluid despite normoglycaemia. GLUT1 deficiency causes a series of symptoms that ma...

Background: Delayed puberty in girls is evoked at the absence of breast development after the age of 13 years. It is relatively rare and must look contrary to the boy an organic cause.Objective and hypotheses: Search the frequency and aetiology of delayed puberty in girls.Method: This is a retrospective study of patients consulting for delayed puberty and collected in 5 years. The of patients was compared to the number of delayed p...

Background: The thyroid disorders in children and adolescents are varied. They are dominated by frequent malignant tumour lesions and goitres represented by Graves’ disease and Hashimoto’s thyroiditis in adolescence. They are characterized by several clinical forms.Objective and hypotheses: To study the clinical and aetiological characteristics of thyroid disease in children and adolescents.Method: This is a retrospective...

Background: Trisomy 21 is a chromosomal abnormality that predisposes to autoimmune diseases. Among them the thyroid dysfunction is frequently observed.Objective and hypotheses: Study the various thyroid diseases in trisomy 21 patients and their therapeutic management.Method: This is a retrospective study of 50 cases of Down syndrome children with thyroid disease, collected over a period of 9 years (2006–2015). All children und...

Background: Premature adrenarche (PA) is defined as the appearance of pubic and/or axillary hair in girls younger than 8 years old and caused by the rise in adrenal androgen production including dehydroepiandrosterone (DHEA), dehydroepiandrosterone sulfate (DHEAS), and androstenedione (A4). DHEAS≥40 µg/dL is accepted as the biochemical marker of adrenarche. However, adrenals also produce 11-oxygenated C19 androgens such as 11β-hydroxyandrostene...

Background: Hyperthyroidism is uncommon in children. Graves’ disease is the most common cause in pediatric population. The diagnosis is based on the presence of anti-TSH receptor antibodies. Pediatric Graves’ disease has some peculiarities mainly in term of treatment and evolution, since its prognostic is different than adults.Aim: The aim of this study is to describe the epidemiological, clinical and biological features of pediatric Graves...

Background: Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, 9 cases have been described in the lit...