ESPE Abstracts

Background: Administration of recombinant GH (rhGH) to GH-deficient children has yielded conflicting results concerning its impact on thyroid function. Data about patients developing subclinical hypothyroidism are scanty, but it is thought to be associated with impairment of metabolic profile and lower growth response.Objective: To investigate the frequency of SH in children with pituitary dwarfism treated with rhGH, as well as its influence on rhGH ther...

Background: The decreased immune tolerance caused by mutations of the autoimmune regulatory gene (AIRE) lead to a spectrum of variable organ specific autoimmune disorders known as autoimmune polyglandular syndrome type 1 (APS-1). The rarity of the syndrome and the heterogenous clinical manifestations at the onset of the disease may delay the diagnosis. Only when two major components of the triad chronic mucocutaneous candidiasis – hypoparathyroidism &nda...

Introduction: Thyroid cancer is the most common pediatric endocrine cancer, constituting 0.5%–3% of all childhood malignancies. Cancer can be present in multinodular thyroid disease but the majority of malignant nodules are solitary. Thyroid malignancies in children are almost always well differentiated.Aim: Prevalence, clinical features, pathological profile and therapy of thyroid cancer in children.Patients and method: Retro...

Introduction: Craniopharyngiomas (CP) are benign, dysontogenic supra or intra-sellar tumours. They are locally aggressive with severe endocrine, neurological and ophthalmological implications. Somatotroph deficiencies rise therapeutic management problems due to increased risk of tumour growth and recurrence.Case report: Male patient, aged 18 years 4 months, born naturally, late-term (42 weeks, 3200 g, Apgar 7), third child in a brotherhood of four (appar...

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

Background: SHORT syndrome is an autosomal dominant genetic multisystem disorder determined by PIK3R1 gene mutations, which normally plays a role in cell signalling. SHORT is an acronym for short stature, hyperextensibility of joints and/or hernia, ocular depression, Rieger anomaly and teething delay. It is a rare condition; its prevalence is unknown with only few affected individuals and families reported worldwide.Case report: We report a case of 4 yea...

Background: Adrenoleukodystrophy (ALD) is an X-linked disease characterized by impaired β-oxidation of very long-chain fatty acids (VLCFA) and in the most severe cases by inflammatory demyelination in the brain, adrenocortical insufficiency (AI), and death. Seven phenotypes were described, with a higher prevalence of the cerebral forms.Case report: We report two cases of ALD with different evolution, in February 2014. First case, an 11 years old boy...

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

Background: There are many aspects of the child thyrotoxicosis similar as in adult but there are also particular characteristics. Thyrotoxicosis is rare in childhood and in majority is about Grave’s Disease.Study Group: 61 patients with ages between 9 and 19 years that were admitted for hyperthyroidism in our department for 19 years. The diagnosis was sustained by clinical signs, hormonal profile, and ultrasound and scintigraphy exam.<p class="a...

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...