ESPE Abstracts

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Poirier-Bienvenue syndrome (POBINDS) is rare neurodevelopmental syndrome, resulting from germline hereteozygous CSNKB2 pathogenic variants. Patients mainly presented with severe epilepsy, delayed psychomotor development and/or profound intellectual disability. More recently patients with CSNK2B pathogenic variants and mild intellectual disability (ID), without any history of epileptic symptoms were reported. Short stature is present in 66% of patients, due in...

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

Background: Growth monitoring of apparently healthy children aims at early detection of severe underlying conditions. Strong empirical evidence shows that current practices of growth monitoring are suboptimal. Practice standardisation with validated tools requires answering two questions: Which conditions should be targeted? How should abnormal growth be defined?Objective and hypotheses: To obtain consensus on a short list of priority target conditions o...

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

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: Numerous studies focused on the association between hypospadias and Endocrine Disrupting Chemicals (EDC) exposures. The wide variability of phenotypes included in these studies, the absence of comparison groups representative of the populations and the absence of concomitant genetic testing to rule out another cause make the results questionable.Objective and hypotheses: We performed a prospective phenotype-specific analysis of patients with ...

Background: Severe forms of 46,XY DSD with uncertain sex may have a family history (FH) in ~15–20% of cases. On the other side of the DSD spectrum, data regarding isolated hypospadias is sparse and a FH of genital malformation is thought to be less frequent.Objective and hypotheses: The aims of the study were i) to determine the frequency of genital abnormalities in families of isolated hypospadiac boys, ii) to determine whether there is a particula...