ISSN 1662-4009 (online)

ey0017.4-1 | Important for clinical practice | ESPEYB17

4.1. Diagnosis, genetics, and therapy of short stature in children: A growth hormone research society international perspective

PF Collett-Solberg , G Ambler , PF Backeljauw , M Bidlingmaier , BMK Biller , MCS Boguszewski , PT Cheung , CSY Choong , LE Cohen , P Cohen , A Dauber , CL Deal , C Gong , Y Hasegawa , AR Hoffman , PL Hofman , R Horikawa , AAL Jorge , A Juul , P Kamenicky , V Khadilkar , JJ Kopchick , B Kristrom , MdLA Lopes , X Luo , BS Miller , M Misra , I Netchine , S Radovick , MB Ranke , AD Rogol , RG Rosenfeld , P Saenger , JM Wit , J Woelfle

To read the full abstract: Horm Res Paediatr. 2019;92:1–14In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...

ey0016.8-16 | New Paradigms | ESPEYB16

8.16. Autoantibodies reactive to adrenocorticotropic hormone can alter cortisol secretion in both aggressive and nonaggressive humans

H Vaeroy , C Adori , R Legrand , N Lucas , J Breton , C Cottard , Rego JC do , C Duparc , E Louiset , H Lefebvre , P Dechelotte , E Western , S Andersson , T Hokfelt , SO Fetissov

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(28): E6576–E6584.It is accepted that aggressive behavior can be viewed as a strategy by humans and animals to cope with stress, implying that neurobiological mechanisms involved in stress responses should underlie both physiological and pathological aggression (15, 16). The hypothalamic–pituitary–adrenal ...

ey0015.4-10 | New perspectives | ESPEYB15

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

NN Hauer , H Sticht , S Boppudi , C Büttner , C Kraus , U Trautmann , M Zenker , C Zweier , A Wiesener , RA Jamra , D Wieczorek , J Kelkel , AM Jung , S Uebe , AB Ekici , T Rohrer , A Reis , HG Dörr , CT. Thiel

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

ey0018.1-6 | Development/Ontogeny | ESPEYB18

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

C Huisman , YA Kim , S Jeon , B Shin , J Choi , SJ Lim , SM Youn , Y Park , K C M , S Kim , SK Lee , S Lee , JW Lee

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

ey0019.13-5 | Improving access to healthcare in pediatric endocrinology and diabetes | ESPEYB19

13.5. Access to insulin products in Pakistan: a national scale cross-sectional survey on prices, availability, and affordability

A Saeed , K Lambojon , H Saeed , Z Saleem , N Anwer , M Majid Aziz , W Ji , W Liu , C Chen , C Yang , Y Fang , Z-U-D Babar

yufang@mail.xjtu.edu.cn Front Pharmacol 2022 13:820621. doi: 10.3389/fphar.2022.820621Brief Summary: This national cross-sectional survey in Pakistan found poor availability of insulin in the public sector, even for brands manufactured by domestic companies.Access to insulin remains a major issue worldwide in low- and middl...

ey0016.3-9 | Congenital Hypothyroidism | ESPEYB16

3.9. Early determinants of thyroid function outcomes in children with congenital hypothyroidism and a normally located thyroid gland: a regional Cohort Study

C Saba , S Guilmin-Crepon , D Zenaty , L Martinerie , A Paulsen , D Simon , C Storey , S Dos Santos , J Haignere , D Mohamed , JC Carel , J Leger

To read the full abstract: Thyroid. 2018;28:959–67.This observational single center study aimed to identify predictors of transient versus permanent congenital hypothyroidism in patients with thyroid gland in situ diagnosed at birth. Strengths of the study are the prospectively documented clinical, biochemical and radiological parameters, the high inclusion rate, a...

ey0018.1-12 | Clinical/Translational | ESPEYB18

1.12. Pituitary incidentalomas in paediatric population: Incidence and characteristics

M Shareef , MP Nasrallah , N AlArab , LA Atweh , C Zadeh , R Hourani

Clin Endocrinol (Oxf). 2021 Feb;94(2):269–276. doi: 10.1111/cen.14353. PMID: 33098093.Every clinician encounters sometimes tricky incidentalomas, i.e., non-symptom-related imaging findings that are a consequence of increased availability and resolution of radiologic imaging.This study evaluated pediatric pituitary incidentalomas (PIs). Pituitary microadenomas...

ey0018.2-2 | Neonatal hypoglycaemia | ESPEYB18

2.2. Accuracy of continuous glucose monitoring in preterm infants: a systematic review and meta-analysis.

C Nava , A Modiano Hedenmalm , F Borys , L Hooft , M Bruschettini , K Jenniskens

BMJ Open. 2020 Dec 24;10(12):e045335. doi: 10.1136/bmjopen-2020-045335. PMID: 33361084This BMJ review aimed to assess the accuracy of CGM devices to detect hypoglycaemia and hyperglycaemia in preterm infants. The key take home messages from the BMJ review were that the sensitivity for CGM devices to diagnose and detect hypoglycaemia in preterm infants was poor but the specificity was h...

ey0018.2-23 | Miscellaneous | ESPEYB18

2.23. Maternal organophosphate flame-retardant exposure alters offspring energy and glucose homeostasis in a sexually dimorphic manner in mice

SN Walley , EA Krumm , A Yasrebi , J Kwiecinski , V Wright , C Baker , TA Roepke

J Appl Toxicol. 2021 Apr;41(4):572–586. doi: 10.1002/jat.4066. PMID: 329695In this study, pregnant dams were exposed to different types of organophosphate flame retardants (OPFRs) at a sensitive development period (from gestation to lactation). The offspring were fed either a high or a low-fat diet for 17 weeks and then underwent a battery of metabolic assessments. OPFR exposure did not alte...

ey0018.6-10 | Patient Related Outcomes | ESPEYB18

6.10. Participant- and Clinician-Reported Long-Term Outcomes After Surgery in Individuals with Complete Androgen Insensitivity Syndrome

Duranteau Lise , Rapp Marion , van de Grift Tim C , Hirschberg Angelica L

J Pediatr Adolesc Gynecol. 2021 Apr;34(2):168–175. doi:10.1016/j.jpag.2020.11.012. PMID: 33248216The authors report the long-term outcomes of 71 patients with Complete Androgen Insensitivity Syndrome (CAIS) in the multicentre cross-sectional dsd-LIFE study. Patients were included at 14 different sites in 6 countries in Europe. This is one of the largest long-term studies on CAIS and is of interest to clinicians who manage girls and women wi...