ESPE Abstracts

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

Background: Our patient, a male infant has bilateral cleft lip and palate, bilateral split hand and foot, semilobar holoprosencephaly and specific pituitary defects (cranial diabetes insipidus, gonadotrophin deficiency). He developed tumoral calcinosis at 16 months.Objective and hypotheses: Our patient’s phenotype is suggestive of Hartsfield syndrome. We hypothesise that he harbours a FGFR1 mutation given recently published findings associa...

Background: Familial growth hormone deficiency (GHD) with an autosomal dominant inheritance pattern (isolated GHD type II) due to multiple different mutations in the GH1 gene have been described.Objective and hypotheses: Describe the clinical characteristics and mutation analysis of affected individuals in a family with growth hormone deficiency inherited in an autosomal dominant pattern.Method: Medical record review.<p class="...

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children.Objective and hypotheses: Recently, mutations in genes usually involved in MODY 1 and 3 have been described in HI.Method: We present here six cases of hyperinsulinism associated with MODY1 (one case) and MODY3 (four cases) and one case of HI associated with MODY5 mutation.Results: Case 1...

The proband is a Caucasian girl with primary amenorrhea and no breast development at the age of 16 11/12 yrs. Unrelated parents; an older brother in good health and a twin brother (GA 31 days; BW 1450g) with reported agenesis of the corpus callosum and socio-emotional behavioral problems. The mother (menarche 14 yrs. and bicornuate uterus) presented four early spontaneous abortions and one stillborn fetus (46, XX) in the 6th month of pregnancy; remaining negative family histor...

Background: Several studies have shown that type 1 diabetes mellitus (T1DM) may contribute to the early onset or acceleration of cognitive impairment (intelligence, psychomotor efficiency, information management speed, visual attention, visual perception and cognitive flexibility). Tear proteomics seems to provide useful information for understanding the molecular mechanisms of various ocular and systemic diseases.Objective and H...

Background: Accumulating evidence has indicated that assisted reproductive technologies (ART) influence the metabolic physiology of the offspring, with a higher predisposition to metabolic disorders. Long-term metabolomic studies that separately consider males and females conceived with intra-cytoplasmic sperm injection (ICSI) vs naturally conceived (NC) children are needed. Previously, we had reported that ICSI-conceived prepubertal girls exhibit significant alterations in th...

Background/Aims: Since the introduction of Assisted Reproduction Technologies (ART), including classic In Vitro Fertilization (IVF) and Intacytoplasmic Sperm Injection (ICSI), in clinical practice, several studies have addressed concerns regarding the long-term health of the offspring, revealing indications of an adverse cardiometabolic outcome. Proprotein convertase subtilisin/kexin type 9 (PCSK9) circulating level is significantly associated with an increased risk of cardiov...

Background: Oxidative stress and adipocytokines are associated with obesity.Objective and hypotheses: To investigate the association of adipocytokines with markers of pro- and anti-oxidation at baseline and their change and correlations during acute aerobic exercise in normal weight and obese pre- and early-pubertal boys.Method: Fifty healthy pre- and early-pubertal, normal weight and obese boys, underwent a baseline blood sampling...