ESPE Abstracts

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: The management of subclinical hypothyroidism (SH) is still challenging in particular for mild forms with TSH levels ranging between 4.5 and 10 mU/L.Objective and hypotheses: to compare left ventricular (LV) geometry and function of SH subjects and matched euthyroid controls, and to evaluate the effect of L-thyroxine (L-T4) therapy on cardiac parameters.Method: Thirty-six (36) children (19 females and 17 males), aged 8.6...

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

Background: Ovarian function in young females with cancer can be damaged due to chemo-radiotherapy. One option to preserve fertility in these patients is the cryopreservation of ovarian tissue, but this is still experimental.Objective and hypotheses: Evaluate our experience with cryopreservation (indications, complications, and reimplantation). Through surveys, understand patient perspectives.Method: A total of 63 women were diagno...

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...

Background: Autoimmune’s thyroiditis (AT) is the most common cause of thyroid diseases in children and adolescents with a peak in early to mid-puberty (prevalence of 0.3–1.2%). Previous studies showed a high rates of familiarity for autoimmune disease (AD) and co-existing autoimmunity in AT subjects.Objective and hypotheses: Aim of our study is to investigate familiarity for AD and co-existing autoimmunity in a large cohort of pediatric AT pati...

Background: The benefits of levothyroxine (L-T4) therapy in subjects with mild SH (TSH between 5 and 10 mU/l with normal FT4 values) are controversial. Current recommendations in adults suggest to start on treatment selected groups of subjects with mild SH and evidence of atherosclerotic CV disease. Data in children are lacking.Objective and hypotheses: To investigate the effect of L-T4 treat...