ESPE Abstracts

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes that accounts for 2–5% of all cases but it is underestimated because it’s often misdiagnosed as T1D or T2D whose symptoms are often overlapping. It is a phenotypically and genetically heterogeneous disorder characterised by autosomal dominant inheritance, a young age of onset and pancreatic β-cell dysfunction.Objective and hypotheses: Actually in about ...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

GH and IGF1 regulate cell proliferation, differentiation and apoptosis playing a key role in growth, and leading to consider potential oncogenic effects of GH. To evaluate possible oncogenic risks in GHD patients who underwent GH replacement therapy, the SAGhE consortium was created. The data collected have not yielded definite conclusions and continuous surveillance is yet required. MiRNAs are regulators of gene expression, and are involved in many biological processes. We ai...

Background: Hyperinsulinemic hypoglycemia is a heterogeneous condition characterized by inappropriate insulin secretion in the presence of low blood glucose levels. It can have various causes, including genetic, metabolic, syndromic, autoimmune, insulinoma, non-insulinoma pancreatogenous hypoglycemia or non-islet cell tumor hypoglycemia. On the other hand, oculofaciocardiodental syndrome is a rare X-linked dominant condition characterized by multiple congenita...

Introduction: Central hypothyroidism is due to a deficiency of TRH/TSH.Patient and Methods, Results: A 9 year old boy (07 Aug. 20) was referred for proportionate short stature (-2.7 SD). He complained of fatigue and had mild peripheral edema. His baseline T4 was 2.9 ug/dL(ref. 4.50-12.50 ug/dL) and TSH 0.04 uIU/ml (0.400-4.00). The TRH test showed low TSH <0.004 Ulu/ML (ref. 0.400-4.00) and low T4 2.70 (ref. 4.50-12....

Background: CHARGE is an autosomal-dominant syndrome which includes a variable combination of coloboma of the eye, heart malformations, atresia of the choanae, retardation of growth and development, and genital and ear abnormalities CHARGE syndrome has rarely been associated with anterior pituitary dysfunction and with structural abnormalities of the pituitary gland only twice. We report the case of a child with CHARGE association and congenital hypopituitaris...

Background: Transient neonatal adrenal dysfunction is reported in association with antiretroviral therapy with Lopinavir and Ritonavir. Other drugs have not been tested.Objective and hypotheses: We report on a preterm girl, born 26 weeks gestation, with elevated 17-hydroxyprogesterone (17OHP) at newborn screening. During pregnancy the mother was treated for HIV with Atripla (Efavirenz, Tenofovir, Emtricitabin) and viral load was suppressed. Furthermore t...

Background: Nephrogenic diabetes insipidus (NDI) is caused by inability of renal collecting duct cells to respond to arginine vassopresin (AVP)/antidiurethic hormone (ADH).Objective and hypotheses: The majority of patients (about 90%) have type 1, X-linked recessive form, of NDI caused by mutation in gene encoding the vassopresin V2 receptor. Type 2, autosomal NDI, have the rest 10% of patients. This type is caused by the aquaporin-2 water channel (AQP2)...

Background: Several years ago, we developed a recombinant cell bioassay to determine serum estrogenic bioactivity (EBA). In addition to its physiological interest, EBA could be a good marker of endocrine-disrupting compounds (EDCs) with estrogenic activity and thus would be useful in the field of environmental-related endocrine diseases.Aims and objectives: To characterise the type of substances that mediate estrogenic activity.Met...