ESPE Abstracts

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

Introduction: Continuous Glucose Monitoring (CGM) devices have introduced new metrics to assess metabolic situation of patients with type 1 diabetes mellitus (T1DM). Among them, the glucose management indicator (GMI) provides a proxy to HbA1c, however, these measures do not always match.Purposes: To evaluate the concordance between GMI and HbA1c, and determinate in which scenarios GMI could replace HbA1c.Subjects a...

Background: Contiguous gene syndromes are disorders caused by deletions of genes that are adjacent to one another. It is caused by partial deletion of Xp21, which includes the genes responsible for glycerol kinase deficiency, congenital adrenal hypoplasia, Duchenne muscular dystrophy (DMD) and intellectual disability. We report the case of a 14-day-old patient with this rare disease.Case report: A 14-day-old newborn was referred to our clinic for scrotal...

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...

Background: Proprotein convertase 1/3 (PC1/3) deficiency, an autosomal-recessive disorder caused by rare mutations in the proprotein convertase subtilisin/kexin type 1 (PCSK1) gene, has been associated with severe malabsorptive diarrhea and certain endocrine abnormalities.Objective and hypotheses: To date, only 13 subjects with PC1/3 deficiency have been reported, now we want to report a new patient who was diagnosed PC1/3 deficiency with novel PCSK1 mut...

Background: Raine syndrome (RS) also known as lethal osteosclerotic bone dysplasia, is a rare autosomal recessive bone disorder. Most of patients with RS die within the first days or weeks of life due to pulmonary hypoplasia. The causative gene FAm20C is located on chromosome 7p22.3. FAm20C is one of the genes that regulate phosphate production. Here, we present a case of RS with hypophosphatemic rickets and a new mutation in FAm2</s...

Background: Neonatal diabetes may be defined as hyperglycemia diagnosed within the first 6 months of life which is permanent neonatal diabetes or transient neonatal diabetes. They can result from some gene mutations such as KCNJ11, ABCC8, INS, GCK, … In there, the most common cause of neonatal diabetes mellitus is associated with activating mutations in the KCNJ11 gene, which encodes Kir6.2-a subunit of the ATP-sensitive potassium channel (KATP) of the β cell and AB...

Keywords: recombinant human growth hormone (rhGH), growth hormone deficiency (GHD), short statureBackground: Recombinant growth hormone is used for the treatment of growth hormone deficiency. In children treated early, catch-up growth is excellent, with a normal final height. A final height gain of 30 cm can be expected on average. However, it has long been recognized that there is variability in the magnitude of individ...

Background: Turner syndrome (TS) patients frequently have short stature. Females adults with TS are usually 20 cm shorter than normal females. Growth hormone (GH) can improve final height in TS patients.Objective: To evaluate GH therapy for children with Turner syndrome in term of efficacy and side effectPatient and Method: This serial cases study was done in TS patients in a perio...

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...