ESPE Abstracts

Background: To diagnose non classical congenital adrenal hyperplasia (NCCAH) and adrenal insufficiency (AI), current guidelines recommend ACTH test. Cutoffs for 17 hydroxyprogesterone (17OHP) and cortisol are derived from immunoassays values. Thanks to a recently developed and validated mass spectrometry approach (LC-MS/MS) we routinely quantify simultaneously 16 circulating steroids and we are able to speculate on new cut off values and uses.<p class="abs...

Background: Rathke’s cleft cysts (RCC) are benign lesions of the pituitary gland, remnants of Rathke’s pouch. RCC have rarely been reported in children and adolescents and are usually known as asymptomatic but some cases may be associated with hormonal disturbances.Objective and hypotheses: The aim of the study was to assess the characteristics and frequency of endocrine disturbances in children with RCC.Method: We retros...

Background: Prednisolone, prednisone, and hydrocortisone, are used during pregnancy, in women with thrombocytopenia, auto immune or inflammatory diseases. The current belief speculates on the absence of adverse effects on the hypothalamo-pituitary-adrenal (HPA) axis of the fetus, thanks to placental 11BHSD2 inactivation.Objective and Hypotheses: We analyzed the results of ATCH tests routinely performed in neonates expose...

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

Background: Silver-Russell syndrome (SRS) is characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth, prominent forehead, severe feeding difficulties and body asymmetry. In around 50%, it is secondary to hypomethylation at the IGF2/H19 imprinted locus on 11p15 (11p15 LOM), and in 10% to a maternal disomy of chromosome 7 (mUPD7). Mechanisms of postnatal growth failure in SRS are not well understood.Objective and hypo...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...

Background: Delta-Like Homologue 1 (DLK1) is a gene encoding a transmembrane protein, which may also be secreted into the circulation. DLK1 levels are known to rise in maternal serum during late gestation and our genetic studies in the mouse have shown that this DLK1 arises from the conceptus. However, the cell population that secretes DLK1 into the maternal circulation has not been identified. Since DLK1 has been shown to be differentially expressed in intrauterine growth res...

Background: An accurate prediction of final height after the first year of growth hormone (GH) treatment may help clinicians to give parents and children more realistic expectations.Objective and hypotheses: To validate two prediction models (with and without max. GH peak) for near final adult height (nFAH) by Ranke et al.Method: Height data of 142 (93 male) idiopathic GH deficient (iGHD) children, treated with GH for at l...