Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus, and/or pituitary have been identified so far to cause genetic forms of CPHD. However, the etiology of around 85% of the cases remains unknown. The aim of this study was to unveil the genetic etiology of CPHD due to congenital hypopituitarism employing whole exome sequencing (WES) in two newborn patients, initially tested and found to be negative for PROP1, LHX3, LHX4 and HESX1 pathogenic variants by Sanger sequencing and for copy number variations by MLPA. In this study, the application of WES in these CPHD newborns revealed the presence of three different heterozygous gene variants in each patient. Specifically in patient 1, the variants BMP4; p.Ala42Pro, GNRH1; p.Arg73Ter and SRA1; p.Gln32Glu, and in patient 2, the SOX9; p.Val95Ile, HS6ST1; p.Arg306Gln, and IL17RD; p.Pro566Ser were identified as candidate gene variants. These findings further support the hypothesis that CPHD constitutes an oligogenic rather than a monogenic disease and that there is a genetic overlap between CPHD and congenital hypogonadotropic hypogonadism.
ObjectivesRapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome.Case presentationsWe describe three cases of ROHHAD-syndrome in Greece. The main and earliest symptom was the excessive and rapid weight gain at 5, 2, and 3 years of age. Years after the onset of obesity, the patients developed hypothalamic dysfunction with various endocrinological abnormalities (at 9, 8, and 6.8 years, respectively), autonomic dysregulation and finally, alveolar hypoventilation (at 14.6, 8, and 7.8 years, respectively), leading to the diagnosis of ROHHAD-syndrome.ConclusionsThe rarity of the syndrome, the variable symptoms’ presentation, and the lack of specific diagnostic tests could explain why no previous cases have been reported from our country. The rapid onset of obesity was underestimated, and the patients were misdiagnosed with other more common obesity syndromes. Therefore, we propose a questionnaire to help physicians identify patients with ROHHAD-syndrome.
The COVID-19 pandemic and the consequent restrictive measures may be related to increased stress and anxiety and to changes in daily behaviors. Children with type 1 diabetes (T1D) are a vulnerable group due to their difficulties in achieving glycemic control and to their medical and psychological comorbidities. The purpose of the current study was to the investigate the changes on emotional and behavioral parameters in children with T1D due to the Coronavirus crisis. A total of 152 children and adolescents, aged 5–18, were studied: 114 (62 boys) with T1D and 38 (19 boys) healthy volunteers (HV) (controls). The study was performed at the Diabetes Center, Aghia Sofia Children’s Hospital, during the first national lockdown in Greece. The CRISIS questionnaire was completed by parents/caregivers. The data were collected in May 2020 and referred to two time-points: three months prior (before the pandemic), and the past two weeks. During the lockdown, it was observed significant aggravation in the “Emotion/Worries (EW)” symptoms in both groups (logEW-before vs. logEW-during the crisis, T1D: 2.66 ± 0.23 vs. 3.00 ± 0.21, p < 0.001 and HV: 2.62 ± 0.16 vs. 2.83 ± 0.18, p < 0.001). Deterioration of “ΕW” was recorded for 93.0% of those with T1D and 92.1% of the HV. “EW” during the lockdown were affected by: previous psychological condition, COVID-related concerns, and “Life Changes due to the COVID-19 crisis in the past two weeks (LC)”. Deterioration was observed in the “daily behaviors” and “use of digital media” for all of the children. The crisis and the associated restrictions negatively affected both the lifestyle parameters and the behavioral and emotional variables of the children with T1D.
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