ESPE Abstracts

Background: Organic lesions in males with central precocious puberty (CPP) have been reported in 40% of cases. This high prevalence decreases (20–29%) when patients with previously diagnosed alterations of central nervous system (CNS) are excluded. Reported predictors of organic lesions are age at puberty onset, bone age, BMI, LH peak response and testosterone levels.Objective and hypotheses: To determine the prevalence and type of intracranial lesi...

Background: Data on anthropometric outcomes in patients with non-classical 21-hydroxylase deficiency (NCCAH) are sparse.Objective: To investigate long-term effects of NCCAH on height and weight.Method: A retrospective, cross-sectional study of 105 girls with NCCAH aged 8.4±4.1 years (0.4–18), mean follow-up 11.4±7.5 years. Outcome measures were height, weight and BMI, expressed as standard deviation score (SDS), at d...

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...

Background: Carnitine deficiency (CD) has been reported in children at time of type 1 diabetes (T1D) diagnosis. By impairing free fatty acid ß-oxidation in liver, muscle mass and pancreatic ß cells, CD might impair glucose homeostasis and residual insulin secretion. We postulate that reversed of these FAO defects may help regenerate a healthier ß cell mass and increased the diabetes honeymoon duration.Objective: Evaluate the effects of car...

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess – a subgroup of PCOS – (mean age 16 year; BMI 23.7 kg/m2) randomly r...

Background: Patients with chromosome 2 pericentromeric duplication are rarely reported in literature.Objective and hypotheses: To describe a young girl with a congenital malformations syndrome, hypogonadotropic hypogonadism and impaired bone quality associated with a chromosome 2 pericentromeric duplication.Results: The proposita was born at 37th weeks of gestation from a twin pregnancy with a cesarean delivery presenting low birth...

Background: GAIA is a health service of Meyer Children Hospital composed of a multidisciplinary team specialized in the management of children victims of child abuse. Sexual abuse occurs when a child is engaged in sexual activities that cannot comprehend, for which the child is developmentally unprepared and cannot give consent, and/or that violate the law or social taboos of society. The sexual activities may include all forms of oral-genital, genital, or anal contact by or t...

Background: Hematocolpos is a rare condition in young girls that can be caused by imperforated hymen or vaginal agenesis. It is usually diagnosed at early puberty with cyclic abdominal pain and amenorrhoea. Menarche is usually observed two years after the start of puberty; sometimes pre-menarcheal bleeding can occur, ranging from isolated premature menarche to spotting in course of puberty. In case of imperforated hymen or vaginal anomaly, a pre-menarcheal uterine bleeding can...

Background: Turner syndrome (TS) affects about one in 2500 liveborn females. It results from the loss of all or part of X-chromosome and has a variable phenotype. The classical form is characterised by short stature, skeletal abnormalities, lymphedema, renal and cardiac anomalies, webbed neck, peculiar neurocognitive profile and gonadal dysgenesis. While loss of up to 2/3 of the X chromosome short arm is compatible with normal fertility, chromosome deletions involving Xq are o...