ESPE Yearbook of Paediatric Endocrinology

Brief summary: This Iranian open label, quasi-experimental and matched controlled clinical trial included 59 girls with stage III–IV chronic kidney disease (CKD), short stature and delayed puberty. Patients were treated with GH (mean dose 0.05 mg/kg/day) and Ethinyl Estradiol (EE). Initial EE dose was 5 μg/day orally, doubled every 3–6 months to a maximum dose before growth plate closure 30 μg/day, and then increased gradually up to 500 μg/day. EE ther...

Brief summary: This cross-sectional and longitudinal study, nested in the Diabetes Care System cohort study from the West Friesland region of the Netherlands (n=990), assessed ‘social jet lag’ as the difference in midpoint of sleep in hours between weekdays and weekend days. Among working individuals with type 2 diabetes (T2D), this discordance between between social and biological rhythms (social jet lag) was associated with poor metabolic control. By contr...

Eur J Endocrinol. 2021 Apr;184(4):575–585. doi: 10.1530/EJE-20-1030. PMID: 33606663.These authors examined the likelihood of remission of diabetes without pharmacological therapy in a retrospective analysis of 34 Italian patients with Transient neonatal diabetes (TNDM).TNDM is a type of neonatal diabetes that remits within the first a few months of life. It is most ...

Diabetes Care. 2021 Jan;44(1):35–42. doi: 10.2337/dc20-1520. PMID: 33184150.The key findings from this cohort of patients with ABCC8 neonatal diabetes mellitus (NDM) are: A) good glycaemic control is maintained over the long-term without any serious adverse events (including severe hypoglycaemia) despite high doses of sulphonylurea, B) some patients show improvements in neurologica...

Thyroid. 2020;30:1732–1744. doi: 10.1089/thy.2019.0825.This study is of importance, revealing a relevant clinical problem in patients under long-term levothyroxine (LT4) substitution and challenging the concept that all hypothyroid patients can be well controlled with LT4 monotherapy.Lacámara et al. present a small but elegant clinical study describi...

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgz260. Abstract: https://pubmed.ncbi.nlm.nih.gov/31821448/In brief: In large kindred including five hypophosphatemic rickets (HR) patients with a pattern of autosomal dominant inheritance, a novel c.979–96 T>A variant in the SGK3 gene segregated perfectly with the phenotype, i.e. present in all 5 patients and in none of ...

One Earth, Volume 3, Issue 4, 23 October 2020, Pages 480-490 https://bit.ly/3vFcRueBy integrating past climate and fossil databases, these authors suggest that climate change was the primary factor in the extinction of Homo species.Homo erectus, H. heidelbergensis and H. neanderthalensis all became extinct. Why? And are we going that way too? The authors claim that cli...

Genet Med. 2021 Oct;23(10):1944-1951. doi: 10.1038/s41436-021-01237-3. Epub 2021 Jun 30. PMID: 34194003Brief Summary: This genetic and developmental study identified pathogenic mutations in GBP1in patients with congenital hypothyroidism investigated by exome sequencing. In the zebrafish model, knockdown experiments revealed hypothyroidism and disordered thyroid morphology. These d...

Reprod Sci. 2022 Jan;29(1):260-269. PMID: 33788173, doi: 10.1007/s43032-021-00561-y. Brief Summary: This study from Israel investigated semen samples from 26 transgender girls aged 14-18 years and notes a general reduction in semen quality parameters. Fertility counselling is mandatory in all transgender adolescents prior to considering hormone interventions, but in ...

Adult Life After Childhood Cancer in Scandinavia Study Groupkenborg@cancer.dk Cancer 2021; 127: 3881-3892. PMID: 34297360.Brief Summary: This register-based cohort study analysed the likelihood of live birth among female childhood cancer survivors (CCSs) diagnosed in between 1943 and 2006, in comparison with the general population. The prevalence of first live birth was lower in CCSs compared to matched con...