0000000000758291
AUTHOR
Paolo Porcelli
Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay
Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldosterone synthase persists and 18 OHB is overproduced. Objective and hypotheses: Isolated aldosterone synthase deficiency should be considered in neonates and infants with failure to thrive and salt wasting. Normal levels of…
Improvement of treatment adherence with growth hormone by easypod™ device: experience of an Italian centre
Abstract Background One of the most important vulnerabilities falling the efficacy of recombinant human growth hormone (r-hGH) treatment is low adherence especially in young patients. This study was planned to describe the correlation between r-hGH treatment efficacy and adherence in real-life setting using easypod™. Methods Forty patients younger than 18 years, affected by a clinical condition in which r-hGH is available and treated with r-hGH easypod™, were enrolled in a retrospective, observational, real-world data, monocentric trial. The study design provided the retrospective collection of records collected by a questionnaire proposed to the patients and their parents and compared with…
VALUTAZIONE CON EASYPODTM DELL’ADERENZA ALLA TERAPIA CON GH IN ETÀ PEDIATRICA E ADOLESCENZIALE: DATI DI UN CENTRO ITALIANO
OBIETTIVI L’aderenza condiziona l’effi cacia a medio e lungo termine della terapia con GH in pazienti in età evolutiva. Il nostro studio si prefi gge di monitorare la terapia con GH, utilizzando il dispositivo elettronico easypodTM e di analizzare correlazioni con effi cacia terapeutica e livelli di IGF-1. METODI Abbiamo condotto uno studio retrospettivo sui dati raccolti tramite easypodTM al fi ne di valutare l’aderenza alla terapia in percentuale di dosi somministrate. In 40 pazienti in età pediatrica affetti da: defi cit di GH, S. di Turner, S. di Prader-Willi, IRC, nati SGA, sono state valutate velocità di crescita in cm/anno e incremento della statura in DS durante il follow-up. RISULT…
The predictive role of pelvic magnetic resonance in the follow up of spontaneous or induced puberty in turner syndrome
Abstract Puberty is a critical age for patients with Turner syndrome (TS): infertility is reported to be linked to karyotype and spontaneous puberty and menarche occur in approximately 30% of patients, especially in mosaicism. However, it is not always predictable considering hormonal pattern and pelvic transabdominal ultrasound scan (US). The aim of the study is to compare the accuracy of Magnetic Resonance Imaging (MRI) and US to evaluate uterine and gonads volume, to visualize the presence of follicles and to predict spontaneous puberty and menarche in girls with TS. In a retrospective study, we evaluated 19 TS patients (age: 9–16 years), who underwent transabdominal pelvic US and pelvic…
GH TREATMENT ADHERENCE IN CHILDHOOD AND ADOLESCENCE IMPROVES USING EASYPODTM DEVICE: DATA DEMONSTRATION IN AN ITALIAN CENTRE
Objectives: Poor adherence to GH treatment is one of the pitfalls affecting the treatment efficacy. This study evaluates the GH treatment, using easypodTM in young patients over 6 months of therapy and describes the relationship between treatment efficacy and adherence. Methods: We collected the retrospective data registered in the electronic device easypodTM in 40 patients treated with GH. Number and doses of injection were used to calculate the percentage of treatment adherence. The inclusion criteria were: GH deficiency and the existence of one of the clinical condition in which GH is available: GHD, SGA, chronic renal failure, Turner syndrome. The GH efficacy was evaluated using the hei…