ESPE Abstracts

Background: Resistance to thyroid hormone (RTH) is a dominantly inherited rare disorder (1:40000) mainly due to mutations in the THRB gene that lead to a decreased end-organ responsiveness to thyroid hormone. Clinical and molecular characteristics of four patients with RTH are described.Patients and methods: Four patients from three non-related families were studied; two boys (8.3 and 9.2 years old) and 2 adults (35 year old male and 27 year old...

Background: Congenital hypopituitarism is a rare cause of pituitary insufficiency (incidence: 12–42 new cases/million per year; prevalence: 300–455 cases/million). The aetiology remains largely unclear: the most frequently correlated genetic abnormalities are those involving transcription factors implicated in pituitary organogenesis. The phenotype and neuroradiological findings associated with the underlying genotype may be highly variable (from an isolated hypopitu...

Background: Septo-optic dysplasia (SOD) is a congenital, rare anomaly (1:10 000) associated with optic nerve hypoplasia, midline brain abnormalities and pituitary hormone abnormalities. Genetic alterations associated are: HESX1, SOX2 and SOX3. SOD’s pattern of growth even without GH treatment has been reported to be often good.Objective and hypotheses: Evaluate SOD’s growth in patients followed in our Centre.Method: See F...

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

Background: Erythrocytosis is characterized by increased number of red blood cells. Primary form is also known as polycythemia vera, while secondary forms can be due to several causes, among which hyperandrogenism. Although the association of severe hyperandrogenism and polyglobulia is known, literature data concerning this comorbidity are overall scanty, and completely lacking in pediatric age.Case report: We report the history of a 14 years-old girl ad...

Background: McCune–Albright syndrome (MAS) is a sporadic and rare disorder, clinically defined by the classic triad of cafè-au-lait skin lesions, polyostotic fibrous dysplasia, and peripheral precocious puberty. Precocious puberty is common in girls, but has been reported in only 15% of affected boys. Clinical trials on therapeutic management of precocious puberty in MAS boys are limited to case reports or small patient cohorts and no data are reported about final he...

Background: in general population Hurthle cell cancer (HCC) accounts for 3-7% of all differentiated thyroid cancers (TC) with a more aggressive course, while its relative prevalence and behavior in childhood is uncertain due to the lack of specific literature reviews.Objective: to describe the largest pediatric HCC cohort to date reported and to estimate its relative prevalence among TC variants in childhood.<p c...

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

Turner syndrome (TS) patients are at risk for a constellation of neurocognitive and psychosocial diseases. TS is associated with an increased risk for difficulties with visual–spatial reasoning, visual–spatial memory, attention, executive functioning, motor, and math skills. Additionally, increased rates of social difficulties, anxiety, and depression are observed.Here we report the case of a 16-years-old Caucasian girl who came to our attentio...

Background: About 85–90% of children born small for gestational age (SGA) experience a catch-up growth that occurs mostly during the first year of life and results in a full stature recovery by the age of 2. The remaining 10–15% do not undergo compensatory growth, achieving - if untreated - an adult height approximately 20 cm below their peers.Objective: The aim of this prospective one-center study was to investigate the relation between bone m...