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...

ey0017.5-1 | Novel Treatments for Rare Skeletal Disorders | ESPEYB17

5.1. C-Type natriuretic peptide analogue therapy in children with achondroplasia

R Savarirayan , M Irving , CA Bacino , B Bostwick , J Charrow , V Cormier-Daire , KH Le Quan Sang , P Dickson , P Harmatz , J Phillips , N Owen , A Cherukuri , K Jayaram , GS Jeha , K Larimore , ML Chan , A Huntsman Labed , J Day , J Hoover-Fong

To read the full abstract: N Engl J Med. 2019 Jul 4;381(1):25–35.In brief: Inhibition of endochondral ossification in Achondroplasia leads to disproportionate short stature. In this phase 2 study, daily subcutaneous injection of vosoritide, a biologic analogue of C-type natriuretic peptide and a potent stimulator of endochondral ossification, results in sustained increase in t...

ey0017.2-21 | Vitamin D Supplementation in Pregnancy and Fetal and Infant Growth | ESPEYB17

2.21. Cord blood Vitamin D status is associated with cord blood insulin and c-peptide in two cohorts of mother-newborn pairs

KM Switkowski , Jr. CA Camargo , P Perron , SH Rifas-Shiman , E Oken , MF Hivert

To read the full abstract: J Clin Endocrinol Metab. Vol 104, Issue 9, September 2019, Pages 3785–3794. PMID: 31127822Maternal vitamin D status during pregnancy has been associated with markers of fetal growth and development. The circulating form of vitamin D, 25-hydroxyvitamin D [25(OH)D], crosses the placenta, and the developing fetus relies on the mother for its vitamin D s...

ey0018.8-11 | New Hope | ESPEYB18

8.11. New Horizons: Novel adrenal regenerative therapies

SR Bornstein , M Malyukov , C Heller , CG Ziegler , G Ruiz-Babot , A Schedl , B Ludwig , C Steenblock

J Clin Endocrinol Metab. 2020; 105(9): 3103–3107. this narrative review, the authors discuss the potential role of novel regenerative therapies for the treatment of adrenal insufficiency, including gene therapy and cell replacement strategies. More specifically, the authors discuss the heterogeneity in adrenal function in patients with Addison...

ey0018.2-13 | Gestational Diabetes Mellitus: Neonatal and Long-term Consequences | ESPEYB18

2.13. Predictors of neonatal adiposity and associations by fetal sex in women with gestational diabetes mellitus and normal glucose-tolerant women

K Benhalima , A De Landtsheer , P Van Crombrugge , C Moyson , J Verhaeghe , H Verlaenen , C Vercammen , T Maes , E Dufraimont , C De Block , Y Jacquemyn , A Laenen , R Devlieger , C Minschart , C Mathieu

Acta Diabetol. 2021 Mar;58(3):341–354. doi: 10.1007/s00592-020-01619-0. PMID: 33216207.The key findings of this multi-centre prospective cohort study were that neonates born to mothers treated for Gestational diabetes mellitus (GDM) (by lifestyle or medication, e.g. insulin or metformin) had high rates of macrosomia but similar adiposity to those born of mothers with normal glucose...

ey0018.4-11 | New Perspectives | ESPEYB18

4.11. Genetic architecture associated with familial short stature

Lin Y , Cheng C , Wang C , Liang W , Tang C , Tsai L , Chen C , Wu J , Hsieh A , Lee M , Lin T , Liao C , Huang S , Zhang Y , Tsai C , Tsai F

J Clin Endocrinol Metab. 2020 Jun 1;105(6):dgaa131. doi: 10.1210/clinem/dgaa131. PMID: 32170311Genetic control of height has been widely explored using genome-wide association studies (GWAS) in multi-ethnic populations (1-4). Although familial short stature (FSS) is the most common type of short stature, its genetic profile and impact on bone metabolism remains to be investigated. This GWAS...

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 ...

ey0018.8-4 | Important for Clinical Practice | ESPEYB18

8.4. Urinary GC-MS steroid metabotyping in treated children with congenital adrenal hyperplasia

C Kamrath , MF Hartmann , J Pons-Kuhnemann , SA Wudy

Metabolism. 2020; 112: 154354. order to better define treatment groups and improve treatment monitoring, the authors performed a retrospective metabotyping analysis using 24-h GC–MS urinary steroid metabolome measurements in young prepubertal children (n=109; age 7.0–1.6 years) with classical congenital adrenal hyperplasia (CAH) ...

ey0015.3-8 | Congenital hypothyroidism | ESPEYB15

3.8 Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

S Lain , C Trumpff , SD Grosse , A Olivieri , G Van Vliet

To read the full abstract: Eur J Endocrinol 2017;177:D1-D12Newborn screening (NBS) is an invaluable tool for identification of CH; however almost 70% of newborns worldwide do not benefit from NBS at all. In countries with NBS, lowering of TSH cut-offs over the years led to major controversy on the optimal TSH screening cut-off. In this very interesting debate paper, arguments are presented f...

ey0018.4-10 | New Perspectives | ESPEYB18

4.10. Short stature is progressive in patients with heterozygous NPR2 mutations

PC Hanley , HS Kanwar , C Martineau , MA Levine

J Clin Endocrinol Metab. 2020;105(10):dgaa491. doi: 10.1210/clinem/dgaa510. PMID: 32816013This study describes the clinical characteristics of an extended family with novel NPR2 mutations. The family was an Ashkenazi Jewish family with no history of consanguinity and included two sisters with compound heterozygous NPR2 missense mutations causing acromesomelic dysplasia Mar...