ESPE Abstracts

Background: Cervico-facial hydatid cyst is rare. It has a high incidence rate in regions with a mild climate such as Mediterranean countries, Middle East, South America, New Zealand, Australia and Southeast Asia. Hydatid cyst develops most often in the liver and lungs in human beings. The incidence of hydatid cysts in the thyroid gland is rare and it accounts for 1% of echinococcosis locations. Primary hydatid cyst of thyroid gland is an exceptional localizati...

Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disorder which is characterized by aging fast in affected individuals. The prevalence of HGPS is around of 1 in 20 million approximately. The exact etiology is not very well known, However it is believed to be an autosomal dominant disorder that occurs due to point mutations in lamin A (LMNA) gene. In this case report we share the challenges of being the first presented case in Oman. A 6 years old Omani boy diagnosed...

Background: Klippel-Trenaunay-Weber syndrome is characterized by a triad of port-wine stain, venous malformation, and bony and soft tissue hypertrophy. Most patients would have two out of the three features. It is a rare disorder occurring in one out of 100000 live births. Diagnosis is largely clinical. The cause is unknown but could be due to a sporadic genetic mutation. Management is conservative.Objective and hypotheses: We report a case of a 4month-o...

Background: This study aims to describe the predictive factors of severe obesity in children followed in French Guiana.Methods: In this observational study, the patients from the French Guianese Childhood Obesity Group database were prospectively included, after giving a statement of patient’s non opposition.Results: Our group classifications revealed that 36 of 150 (24%) participants were classified as being ...

Background: Ectopic thyroid tissue can be found anywhere along the normal path of thyroid descent, but is most commonly found at the base of the tongue, in which case it may be referred to as a lingual thyroid. Although the patients are usually asymptomatic, it can lead to symptoms such as dysphonia and dysphagia. We present a child patient with a lingual thyroid resulting in severe dysphagia that was cured surgically.Case presen...

Background: Conventionally, 46 XX infants with congenital adrenal hyperplasia (CAH) were reared as females, even if considerably virilised at birth. However, lately there has been some debate on this stance, and male gender of rearing is also being considered.Objective and hypotheses: We report on a 9 year old genetically female child (N) with salt wasting CAH reared as a male, with precocious female puberty, currently suppressed with GnRH analogs, and d...

Background: Glycaemic control is adversely affected by family conflict derived from the psychological impact of the disease upon parents.Objective and hypotheses: To identify parental psychological stressors and thus interventions deemed useful to provide parental support.Method: 252 diabetic children were identified and PIP questionnaires were sent to each household to assess parental stress. Two parental focus groups were held to...

Background: The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (CAH). In women with classic CAH, the fertility rate is lower than in the general female population, and an increased rate of miscarriages has been reported. There are no data on the incidence rate of miscarriages in families with an offspring that have classic CAH.Methods: The families came from different parts of Germany and attended the annual meeting of th...

Resistance to thyroid hormone (RTH) is attributed to mutations in the thyroid receptor beta (RTH-β) gene. The syndrome is characterized by decreased sensitivity of target tissues to thyroid hormone (TH) action, leading to elevated TH levels, accompanied by normal or high thyroid-stimulating hormone (TSH) values, with variable clinical manifestations such as goiter, which is the most common finding, reported in 66–95% of cases and delayed growth and bone maturation, ...

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...