ISSN 1662-4009 (online)

ey0018.1-1 | A Comprehensive Review of Hypopituitarism | ESPEYB18

1.1. Insights into non-classic and emerging causes of hypopituitarism

F Prodam , M Caputo , C Mele , P Marzullo , G Aimaretti

Nat Rev Endocrinol. 2021 Feb;17(2):114–129. doi: 10.1038/s41574-020-00437-2. PMID: 33247226.We highly recommend this comprehensive review by Prodam et al. to everyone as a starter to this chapter. How many of you knew that hypopituitarism in humans was first described just over 100 hundred years ago? The authors of this excellent review divide the causes of hypopituitarism...

ey0018.8-1 | Mechanism of the year: neuropeptide substance P regulates aldosterone secretion | ESPEYB18

8.1. The neuropeptide substance P regulates aldosterone secretion in human adrenals

J Wils , C Duparc , AF Cailleux , AG Lopez , C Guiheneuf , I Boutelet , HG Boyer , C Dubessy , S Cherifi , B Cauliez , F Gobet , G Defortescu , JF Menard , E Louiset , H Lefebvre

Nat Commun. 2020;11(1): 2673.https://pubmed.ncbi.nlm.nih.gov/32471973/The authors conducted an experimental study in male human volunteers to examine the effects of a neurokinin type 1 receptor (NK1R) antagonist on aldosterone secretion. The findings show the presence of Substance P (SP)-positive nerve fibres in the human adrenal cortex in the vicinity of aldosterone-producing cells and wit...

ey0018.10-4 | (1) | ESPEYB18

10.4. Extended family history of type 1 diabetes in HLA-predisposed children with and without islet autoantibodies

S Kuusela , P Keskinen , T Pokka , M Knip , J Ilonen , P Vahasalo , R Veijola

Pediatr Diabetes. 2020;21(8):1447–1456. doi: 10.1111/pedi.13122Family histories suggest strong degrees of inheritance of T1D in some children, especially in populations with an overall high risk of autoimmunity.This paper from the Finnish T1D Prediction and Prevention (DIPP) study looked at subjects carrying high HLA-conferred risk for T1D. A family history of T1D in...

ey0018.3-7 | Follow-up paper from the 2018 Yearbook | ESPEYB18

3.7. A Novel homozygous mutation in the solute carrier family 26 member 7 gene causes thyroid dyshormonogenesis in a girl with congenital hypothyroidism

P Hermanns , C Claszen , J Pohlenz

Thyroid. 2020;30:1831–1833. doi: 10.1089/thy.2020.0293.Every year, we report on new genes that have been associated with congenital hypothyroidism. But it is the first time in all these years that, following the first description, other groups from different continents confirm the first reports in independent cohorts in such a short time after publication.This is ...

ey0017.11-1 | Corona and Obesity | ESPEYB17

11.1. Obesity could shift severe COVID-19 disease to younger ages

DA Kass , P Duggal , O Cingolani

To read the full abstract: Lancet 2020;395(10236):1544–45.This study tested the association between age and BMI using data from patients (n =265) with COVID-19 infection treated at the intensive care units at 6 US University Hospitals. Results show a significant inverse correlation between age and BMI in this sample. Interestingly, adolescents and young adults were more likely...

ey0015.5-11 | GNAS and subcutaneous ossifications | ESPEYB15

5.11 Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI

P Salemi , JM Skalamera Olson , LE Dickson , EL Germain-Lee

To read the full abstract: J Clin Endocrinol Metab 2018;103:158-168Defects at the GNAS locus give rise to various phenotypes, several of which are associated with subcutaneous ossifications (SCOs), which cause significant morbidity among the affected individuals. A subgroup of patients with paternally inherited GNAS mutations have progressive osseous heteroplasia (POH), characterized by severe he...

ey0017.3-3 | Thyroid development | ESPEYB17

3.3. Glis3 as a critical regulator of thyroid primordium specification

G Rurale , F Marelli , P Duminuco , L Persani

To read the full abstract: Thyroid. 2020;30:277–289.GLIS3 gene mutations are associated with a syndrome that combines neonatal diabetes and congenital hypothyroidism due to thyroid dysgenesis [1]. Glis3 knockout mouse models showed functional deficits of thyroid hormone synthesis but were not able to shed light on the role of Glis3 during thyroid organogenesis resulting in thyroid dysgenesis. Rurale et al.</em...

ey0017.5-2 | Advances in Clinical Practice | ESPEYB17

5.2. Osteogenesis Imperfecta: Skeletal outcomes after bisphosphonate discontinuation at final height

ME Robinson , P Trejo , T Palomo , FH Glorieux , F Rauch

To read the full abstract: J Bone Miner Res. 2019 Dec;34(12):2198–2204.In brief: In Osteogenesis imperfecta (OI), intravenous (IV) cyclical bisphosphonates are often discontinued after cessation of growth in adolescents. This study showed that, four years after discontinuation of treatment, none of the patients sustained new vertebral compression fractures, and the proportion ...

ey0017.12-6 | Type 2 Diabetes | ESPEYB17

12.6. Effect of surgical versus medical therapy on diabetic kidney disease over 5 years in severely obese adolescents with type 2 diabetes

P Bjornstad , K Hughan , MM, et al. Kelsey

To read the full abstract: Diabetes Care 2020;43(1):187–95. doi: 10.2337/dc19-0708Short summary: Over 5 years follow-up, bariatric surgery compared with medical treatment resulted in dramatic attenuation of diabetic kidney disease (DKD) in adolescents with T2DM and severe obesity, beyond the impact of improved glycaemic control and weight loss.Comment</em...

ey0018.4-7 | Growth Hormone Therapy: Safety | ESPEYB18

4.7. Association of childhood growth hormone treatment with long-term cardiovascular morbidity

A Tidblad , M Bottai , H Kieler , K Albertsson-Wikland , L Savendahl

JAMA Pediatr. 2021;175(2):e205199. doi: 10.1001/jamapediatrics.2020.5199. PMID: 33346824This nationwide population-based study assessed the long-term risk of cardiovascular events in patients who had received rhGH therapy during childhood and adolescence. The study cohort comprised 3.408 subjects treated under the GHD, SGA or ISS indications, and 50 036 age-, sex-, and region-base...