ESPE Abstracts

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Introduction: Graves’ disease is a common etiology of hyperthyroidism. The association of Graves’ disease and idiopathic combined pituitary hormone deficiency (ICPHD) is rare. We report the case of a patient followed for ICPHD who developed Graves’ disease during follow-up.Observation: A 13-year-old patient consults for stature delay. She had a family history of idiopathic hypogonadotropic hypogonadism in a 25-year-old bro...

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...

Introduction: Diabetes mellitus has been shown to be a major risk factor for development of early adult onset cardiovascular disease (CVD). Therefore, early detection and management of CVD became a major concern for health care providers. Epicardial fat thickness (EFT) is considered a new marker of visceral adiposity. The increased epicardial adiposity does not only increase the cardiovascular risk but also is considered an established risk factor for appearan...

Introduction: In virilized females with Congenital Adrenal Hyperplasia (CAH), the principal aims of surgery are to reduce the size of clitoris, create a vaginal orifice that will allow menstrual flow and intercourse, and to correct the urogenital sinus to prevent incontinence.Surgical techniques evolved with time to make not only "cosmetically accepted" genitalia but also normally functioning. The complications of feminizing geni...

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder in childhood and is one of the most common preventable causes of mental retardation. Thyroid hormones (TH) are essential for normal development of auditory system. Deficiency of TH during fetal and early postnatal sensitive periods of ear development, results in various degree of congenital hearing impairments or even in deafness if TH substitution is not instituted within a critical ...

Background: Neonatal thyroid screening is considered one of the best cost-effective tool to prevent mental retardation in population. Different strategies are suggested for thyroid hormone estimation in the sample obtained at birth using cord blood or later in neonatal period. In King Abdulaziz Medical City, cord TSH is the screening tool to detect congenital hypothyroidism cases with a cut off value of 30 MIU/l considered positive result. In 2011, newborn screening programme ...

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

Background: Hyperthyroidism is considered to be rare in children; its clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of children diagnosed with hyperthyroidism in an endocrinology unit in a children hospital in Tunisia.Results: Seven cases o...