ISSN 1662-4009 (online)

ey0017.3-6 | Congenital hypothyroidism | ESPEYB17

3.6. Neonatal screening for congenital hypothyroidism: what can we learn from discordant twins?

E Medda , MC Vigone , A Cassio , F Calaciura , P Costa , G Weber , T de Filippis , G Gelmini , M Di Frenna , S Caiulo , R Ortolano , D Rotondi , M Bartolucci , R Gelsomino , S De Angelis , M Gabbianelli , L Persani , A Olivieri

To read the full abstract: J Clin Endocrinol Metab. 2019;104:5765–5779.It is not clear whether retesting is needed for a healthy cotwin of a twin pair discordant for congenital hypothyroidism (CH) at the first neonatal screening. Medda et al. retrospectively analyzed a cohort of 47 twin pairs discordant for CH at the first neonatal screening. On follow-up, 7 (15%) of cotwins who were initially negatively screened then tested positi...

ey0017.4-4 | Important for clinical practice | ESPEYB17

4.4. Cognitive profiles and brain volume are affected in patients with Silver-Russell syndrome

G Patti , L De Mori , D Tortora , M Severino , M Calevo , S Russo , F Napoli , L Confalonieri , M Schiavone , HF Thiabat , E Casalini , G Morana , A Rossi , LA Ramenghi , M Maghnie , N Di Iorgi

To read the full abstract: J Clin Endocrinol Metab, April 2020, 105(4):e1478–e1488Silver–Russell syndrome (SRS) is a rare condition associated with pre and postnatal growth retardation. The most common causes of SRS are 11p15 ICR1 loss of methylation (LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). Almost all patients with SRS have a history of intrauterine growth retardation (IUGR) and may be born small for gestational a...

ey0017.14-7 | (1) | ESPEYB17

14.7. Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

M Zanella , A Vitriolo , A Andirko , PT Martins , S Sturm , T O’Rourke , M Laugsch , N Malerba , A Skaros , S Trattaro , PL Germain , M Mihailovic , G Merla , A Rada-Iglesias , C Boeckx , G. Testa

To read the full abstract: Science Advances 2019;5:eaaw7908This paper shows that the craniofacial and cognitive/behavioral phenotypes caused by alterations at the critical gene region for the Williams-Beuren syndrome is caused by changes in the chromatin remodeler BAZ1B in neural crest, and can serve as an entry point into the evolution of the modern human face and pro-sociality.Williams-Beuren syndrome is caused ...

ey0016.3-4 | Thyroid Hormone Action | ESPEYB16

3.4. Non-thyroidal illness syndrome in critically ill children: prognostic value and impact of nutritional management

A Jacobs , I Derese , Perre S Vander , Puffelen E van , S Verstraete , L Pauwels , S Verbruggen , P Wouters , L Langouche , Guerra G Garcia , K Joosten , I Vanhorebeek , Berghe G Van den

To read the full abstract: Thyroid. 2019;29:480–492.The thyroid axis is particularly responsive to critical illness. Adaptation processes of the thyroid axis to critical illness and prolonged fasting are well described as non-thyroidal illness syndrome. Non-thyroidal illness is mainly explained by two mechanisms: 1) peripheral inactivation of T4 to rT3 by decreased type-1 deiodinase...

ey0016.13-16 | Micronutrients | ESPEYB16

13.16. Global prevalence and disease burden of vitamin D deficiency: a roadmap for action in low- and middle-income countries

DE Roth , SA Abrams , J Aloia , G Bergeron , MW Bourassa , KH Brown , MS Calvo , KD Cashman , G Combs , LM De-Regil , ME Jefferds , KS Jones , H Kapner , AR Martineau , LM Neufeld , RL Schleicher , TD Thacher , SJ Whiting

Ann N Y Acad Sci. 2018 Oct;1430(1):44–79. DOI: 10.1111/nyas.13968• This technical report reviews the global prevalence and public health disease burden of vitamin D deficiency.• Funded by the Bill & Melinda Gates foundation, the working group of content experts from North America and Europe provide a roadmap outlining population-based strategies to impr...

ey0015.8-2 | Mechanism of the Year | ESPEYB15

8.2 A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

FL Fernandes-Rosa , G Daniil , IJ Orozco , C Göppner , R El Zein , V Jain , S Boulkroun , X Jeunemaitre , L Amar , H Lefebvre , T Schwarzmayr , TM Strom , TJ Jentsch , MC Zennaro

To read the full abstract: Nat Genet. 2018; 50(3): 355-361[Comments on 8.1 and 8.2] Primary aldosteronism (PA) is the most common form of secondary hypertension, affecting 3–5% of the general hypertensive population and 8–10% of patients referred to specialist hypertension services, although it is very rare in children (...

ey0015.8-9 | Important for Clinical Practice | ESPEYB15

8.9 The short cosyntropin test revisited - new normal reference range using LCMSMS

GÅ Ueland , P Methlie , M Øksnes , HB Thordarson , J Sagen , R Kellmann , G Mellgren , M Ræder , P Dahlqvist , SR Dahl , PM Thorsby , K Løvås , ES Husebye

To read the full abstract: J Clin Endocrinol Metab. 2018; 103(4):1696-1703How we measure steroids has been a constant debate in recent years because current routinely used immunoassays lack both specificity and sensitivity. Therefore, chromatographic, mass spectrometric methods have been pushed forward for their higher sensitivity and specificity, and for their advantage to provide multiple measu...

ey0015.8-10 | Important for Clinical Practice | ESPEYB15

8.10 Guidelines for the Diagnosis and Management of Critical Illness-Related Corticosteroid Insufficiency (CIRCI) in Critically Ill Patients (Part I): Society of Critical Care Medicine (SCCM) and European Society of Intensive Care Medicine (ESICM) 2017

D Annane , SM Pastores , B Rochwerg , W Arlt , RA Balk , A Beishuizen , J Briegel , J Carcillo , M Christ-Crain , MS Cooper , PE Marik , G Umberto Meduri , KM Olsen , SC Rodgers , JA Russell , G Van den Berghe

To read the full abstract: Crit Care Med. 2017; 45(12): 2078-2088This guideline replaces/updates the 2008 recommendations regarding the diagnosis and management of critical illness-related corticosteroid insufficiency (CIRCI) in adult and pediatric patients. In CIRCI, inadequate glucocorticoid-mediated anti-inflammatory activity is observed in relation to the severity of the critical illne...

ey0020.1-4 | Thyroid Development | ESPEYB20

1.4. Transplantable human thyroid organoids generated from embryonic stem cells to rescue hypothyroidism

M Romitti , A Tourneur , B de Faria da Fonseca , G Doumont , P Gillotay , XH Liao , SE Eski , G Van Simaeys , L Chomette , H Lasolle , O Monestier , DF Kasprzyk , V Detours , SP Singh , S Goldman , S Refetoff , S Costagliola

Brief summary: In recent years, generation of human organoids of different tissues from human embryonic stem cells have been realized, e.g. intestine, liver, and lung among others. In contrast, so far all attempts to generate fully mature and functional human thyroid follicular cells from stem cells was not successful. Romitti et al. present for the first time successful generation of transplantable and functional human thyroid organoids derived from human embryonic s...

ey0020.3-4 | Advances in Clinical Practice | ESPEYB20

3.4. Skeletal and extraskeletal disorders of biomineralization

MT Collins , G Marcucci , HJ Anders , G Beltrami , JA Cauley , PR Ebeling , R Kumar , A Linglart , L Sangiorgi , DA Towler , R Weston , MP Whyte , ML Brandi , B Clarke , RV Thakker

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...