ISSN 1662-4009 (online)

ey0015.1-6 | New mechanisms | ESPEYB15

1.6 Hypothalamic sonic hedgehog is required for cell specification and proliferation of LHX3/LHX4 pituitary embryonic precursors

G Carreno , JR Apps , EJ Lodge , L Panousopoulos , S Haston , JM Gonzalez-Meljem , H Hahn , CL Andoniadou , JP Martinez-Barbera

To read the full abstract: Development 2017;144:3289-3302Aberrant development of the anterior pituitary can lead to congenital hypopituitarism (CH) in humans and hence understanding how this organ develops is critical to understand CH. The anterior pituitary develops in intimate contact with the prospective hypothalamus, which secretes growth factors that are required for the pituitary gland to grow...

ey0015.3-1 | Thyroid development | ESPEYB15

3.1 GLIS3 is indispensable for TSH/TSHR-dependent thyroid hormone biosynthesis and follicular cell proliferation

HS Kang , D Kumar , G Liao , K Lichti-Kaiser , K Gerrish , XH Liao , S Refetoff , R Jothi , AM Jetten

To read the full abstract: J Clin Invest 2017;127:4326-4337Mutations in the Krüppel-like zinc finger transcription factor GLI-similar 3 (GLIS3) have first been associated with a syndrome combining two rare genetic endocrine diseases, namely neonatal diabetes and congenital hypothyroidism (OMIM #610199)1. Since then, 12 patients have been reported so far with a broad spect...

ey0015.13-23 | Growth and Development | ESPEYB15

13.23 Trade-offs between immune function and childhood growth among Amazonian forager-horticulturalists

SS Urlacher , PT Ellison , LS Sugiyama , H Pontzer , G Eick , MA Liebert , TJ Cepon-Robins , TE Gildner , JJ Snodgrass

To read the full abstract: Proc Natl Acad Sci USA 2018; 115(17) E3914-E3921Pediatric endocrinologists have long known that chronic disease, such as severe asthma or inflammatory bowel disease, leads to slower growth and short stature. But it is not always clear whether this is due to the disease (decreased oxygen to the tissues, decreased absorption of calories, infections), to the treatment (c...

ey0020.6-8 | New Hope | ESPEYB20

6.8. A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair

H Agnani , G Bachelot , T Eguether , B Ribault , J Fiet , Y Le Bouc , I Netchine , M Houang , A Lamaziere

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

ey0020.7-3 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.3. Hypothalamic-pituitary-gonadal function, pubertal development and fertility outcomes in male and female medulloblastoma survivors: a single centre experience

E Stern , M Ben-Ami , N Gruber , A Toren , S Caspi , G Abebe-Campino , M Lurye , M Yalon , D Modan-Moses

Brief summary: This single-centre retrospective study analysed gonadal function in 62 patients (41 males) with medulloblastoma, treated between 1987 and 2021. The aim of the study was to characterize gonadal function and identify risk factors for gonadal failure.Survival rates of patients with medulloblastoma have significantly improved with the combination of many therapeutic approaches, such as adjuvant chemotherapy, craniospinal irradiation (CSI), sur...

ey0020.11-9 | Diabetes | ESPEYB20

11.9. Global burden of type 2 diabetes in adolescents and young adults, 1990-2019: systematic analysis of the Global Burden of Disease Study 2019

J Xie , M Wang , Z Long , H Ning , J Li , Y Cao , Y Liao , G Liu , F Wang , A Pan

Brief summary: The authors used data from the Global Burden of Disease 2019 to examine the incidence, disability adjusted life years and mortality of early onset type 2 diabetes T2D) in those 15–39 years of age. This showed that early onset T2D is a growing global health problem in adolescents and young adults, particularly in low-middle- and middle-income countries.Early onset of type 2 diabetes (T2D) is associated with longer lifetime exposure hyp...

ey0021.5-12 | Novel Treatments | ESPEYB21

5.12. Once-weekly transCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-Blind, placebo-controlled, dose-escalation trial

Savarirayan Ravi , Hoernschemeyer Daniel G. , Ljungberg Merete , Zarate Yuri A. , Bacino Carlos A. , Bober Michael B. , Legare Janet M. , et al.

In brief: This multinational, randomised, double-blind, placebo-controlled, dose-escalation Phase 2 study evaluated the safety and efficacy of TransCon CNP (navepegritide), a C-type natriuretic peptide (CNP) analogue designed to allow continuous CNP exposure with once-weekly dosing, in 42 children with achondroplasia aged 2-10 years. The study was sponsored by Ascendis Pharma.Commentary: Achondroplasia is one of the most common constitutional bone disord...

ey0021.8-6 | Important for Clinical Practice | ESPEYB21

8.6. Glucose. pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring

A Galderisi , D Kariyawasam , A Stoupa , AN Quoc , G Pinto , M Viaud , S Brabant , J Beltrand , M Polak , D Samara-Boustani

Brief Summary: This study investigated daily glucose patterns in young children with classic congenital adrenal hyperplasia (CAH) and their relation with hormonal circadian rhythm.Comment: The aim of treatment in classical CAH is to provide adequate glucocorticoid and – when necessary – mineralocorticoid replacement to prevent adrenal crises and suppress excess adrenal androgen production. Glucocorticoids regulate glucose homeostasis, and patie...

ey0021.15-5 | New Concerns | ESPEYB21

15.5. Iatrogenic Alzheimer's disease in recipients of cadaveric pituitary-derived growth hormone

G Banerjee , SF Farmer , H Hyare , Z Jaunmuktane , S Mead , NS Ryan , JM Schott , DJ Werring , P Rudge , J. Collinge

In Brief: These authors investigated patients referred to the UK National Prion Clinic (NPC) for suspected prion diseases. They identified 8 individuals with a history of receiving treatment with cadaveric pituitary-derived growth hormone (c-hGH) and referred to, or reviewed by, the NPC between 2017 and 2022. None had a diagnosis of iatrogenic Creutzfeldt–Jakob disease (CJD) (on the basis of clinical presentation, neuroimaging and biomarkers and, in two cases, by postmort...

ey0019.4-11 | New Paradigms | ESPEYB19

4.11. Fine-tuning cardiac insulin-like growth factor 1 receptor signaling to promote health and longevity

M Abdellatif , V Trummer-Herbst , AM Heberle , A Humnig , T Pendl , S Durand , G Cerrato , SJ Hofer , M Islam , J Voglhuber , Pittol JM Ramos , O Kepp , G Hoefler , A Schmidt , PP Rainer , D Scherr , Lewinski D Von , E Bisping , JR McMullen , A Diwan , T Eisenberg , F Madeo , K Thedieck , G Kroemer , S Sedej

Circulation, 2022: Jun 21;145(25):1853-1866 PMID: 35616058Brief Summary: This translational study evaluated cardiac health and lifespan in two cardiomyocyte-specific transgenic mice with either enhanced or reduced IGF-1 signaling and in human cardiac biopsies from failing and nonfailing hearts. Increased IGF1R expression was related to better cardiac performance in young mice but faster decline of cardiac function with aging. Conversely reduced ...