ESPE Abstracts

Introduction: Idiopathic intracranial hypertension (IIH) is a rare neurological condition characterized by raised intracranial pressure (ICP) in the absence of hydrocephalus, brain parenchymal lesion, vascular malformation, or central nervous system (CNS) infection. Hyperthyroidism is a rare but known cause of raised ICP in children and adults, with only a few case reports in the paediatric population. We describe a 7-year-old boy with IIH associated with hype...

Background: Pituitary apoplexy is a clinical syndrome caused by haemorrhage of the pituitary gland, typically characterised by acute confusion, headache, vomiting and visual disturbance. It is regarded as a medical emergency. It is rare in childhood and adolescence, occurring in association with pituitary tumours. We report an unusual case of pituitary apoplexy associated with a cerebral infarction secondary to internal carotid artery compression.<p class=...

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and though a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of pamidronate on fractures, bone mineral density (B...

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development and are associated with a variety of phenotypes, ranging from phenotypic women (complete androgen insensitivity syndrome) to milder degrees of undervirilization (partial and mild forms).Aims and objectives: To specify how a phenotype-genotype correlation can be refined by in vitro study based on the nature of amino acid substitutio...

Background: Pubertal gynecomastia is a common condition appearing in up to 65% of adolescent boys. However, if male breast development is over B3–B4 and lasts more than 2–3 years, persistent pubertal gynecomastia (PPG) may be the sign of serious endocrine disease and the source of considerable psychological discomfort.Objective and hypotheses: We investigated a cohort of 24 adolescents with PPG followed at the Pediatric Endocrinogy Unit over a ...

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

Background: Epidemiological evidence in Europe indicates the increasing prevalence of premature puberty, especially in girls. This may be attributed to in utero and early-life exposure to environmental estrogen-like compounds present in pesticides, plastics (bisphenol A, phtalates …) and beauty products.Objective and hypotheses: The aim of this study was to assess the prevalence of premature thelarche (PT) and central precocious puberty (C...

Background: Pubertal virilization in a 46,XY DSD patient is generally due to partial androgen insensitivity, 5-alpha-reductase deficiency, or 17-ketoreductase deficiency. Recently, reports have identified virilization signs associated with NR5A1/SF-1 gene mutations.Cases presentation and method: We present two unrelated cases of pubertal virilization due to NR5A1/SF-1 gene mutation. Both were suspected to be primarily affected by 5-alph...

Background: Partial androgen insensitivity syndrome (PAIS) covers a large spectrum of phenotypes, with the common denominator being insufficient virilisation of the external genitalia in an XY child with normal testosterone (T) production. Genetic diagnosis of PAIS is based on the identification of an androgen receptor (AR) gene mutation.Aim: The aim of this work was to determine whether the PAIS-like phenotype is associated with other gene mutations.</p...

Background: A recent report (JCI, 2014) described a new homozygous NR5A1/SF-1 mutation in a patient with XY DSD and spleen agenesis. To date, no other data have confirmed this association, raising the hypothesis of fortuity.Case presentation and method: We had the opportunity to study an adolescent girl referred for virilisation during puberty. She presented voice deepening and clitoral hypertrophy. Biological investigations showed high plasma testostero...