ESPE Abstracts

Background: Obesity has increased drastically in the last few years. It’s well known the connection between intrauterine growth restriction (IUGR) and the development of metabolic syndrome based on the thrifty phenotype. Some studies have proposed that a poor intrauterine environment could lead to the development of chronic conditions later in life, and its believed leptin is involved in this process.Objective and hypotheses: Establish the mean of l...

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

Background: DICER1, a ribonuclease, cleaves non-coding small RNA precursors to generate mature microRNAs (miRNAs), of ~21 nucleotides in length. MiRNAs alter gene expression post-transcriptionally by directly binding to mRNA transcripts and subsequently down-regulating gene expression. It is estimated that expression of ~30–70% of all mammalian protein-coding genes are regulated in this manner.Method: Sequencing of DICER1 in various tumors, accompan...

The human adrenal cortex produces a wide range of steroids that includes aldosterone, cortisol and a variety of 19 carbon (C19) steroids; the most studied being DHEA. In humans, adrenarche is the endocrine developmental process manifested by an increased adrenal output of DHEA. This phenomenon corresponds with the expansion of the zona reticularis of the adrenal gland. However, the physiological mechanisms that trigger adrenarche remain elusive. Our research focuses...

Metformin was the first and only drug approved in 1999 for use in youth with type 2 diabetes (T2D) based on a small, randomized clinical trial. Insulin was also approved but this was based only on the effective use of insulin in children with T1D. For more than 20 years, no new drugs had been approved for use in pediatric T2D based on a randomized study. A major reason why many of the new drugs have not been approved in pediatrics is that adolescents with T2D are difficult to ...

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...

Familial Male-limited Precocious Puberty is a rare form of gonadotropin-independent precocious puberty. It is inherited in an autosomal dominant manner and it is caused by mutation in the LH/chorionic gonadotropin receptor (LHCGR) that promotes the production of cAMP without the hormone ligand, causing increased androgen production that determines the onset of puberty. The prevalence reported is less than 1/ 1 000 000. As there are few cases reported in the literature, informa...

Background: Childhood tumours of the hypothalamic pituitary axis (HPATs) are very rare and hence any single centre experience is limited. Without evidence-based guidance, treatment is individualised on a case basis. Survival rates are high, but at the expense of significant morbidity. Centralised care or wider multi-professional consultation may improve neuroendocrine and visual outcomes.Objective and hypotheses: i) To facilitate multi-professional dialo...

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: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...