ISSN 1662-4009 (online)

ey0015.13-15 | Advances in the Diagnosis and Management of Congenital Hypothyroidism | ESPEYB15

The five papers included in this section reflect the increasing interest by resource-limited countries in developing such a program but also highlight specific points that need to be considered in countries that embark in this wonderful initiative to make it successful.

S Gowachirapant , N Jaiswal , A Melse-Boonstra , V Galetti , S Stinca , I Mackenzie , S Thomas , T Thomas , P Winichagoon , K Srinivasan , MB Zimmerman

To read the full abstract: Lancet Diabetes Endocrinol 2017; 5:853-63 This prospective, randomized trial investigates the benefits of iodine supplementation (200 mcg per day) in pregnant women from Thailand and India on the neurological development of their children. Iodine readily crosses the placenta and is required for the synthesis of thyroid hormones by the fetal thyroid gland. In add...

ey0015.14-1 | Why do women have more autoimmune disease than men? | ESPEYB15

14.1 Estrogen receptor α contributes to T cell–mediated autoimmune inflammation by promoting T cell activation and proliferation

I Mohammad , I Starskaia , T Nagy , J Guo , E Yatkin , K Väänänen , WT Watford , Z Chen

To read the full abstract: Sci. Signal. 2018;11:eaap9415Women are more frequently affected by autoimmune disorders than men. A role for estrogen was suggested by the observation that the development of inflammatory bowel disease was associated with oral contraceptive use. Women also respond to infection and vaccination with higher antibody production and a T helper 2 (TH2) cell&#8211...

ey0020.1-5 | Follow-up Paper from the 2022 Yearbook | ESPEYB20

1.5. Evaluation of the molecular landscape of pediatric thyroid nodules and use of a multigene genomic classifier in children

JN Gallant , SC Chen , CA Ortega , SL Rohde , RH Belcher , JL Netterville , N Baregamian , H Wang , J Liang , F Ye , YE Nikiforov , MN Nikiforova , VL Weiss

Brief summary: In 2021 and 2022, two important publications on pediatric thyroid carcinomas revealed a distinct molecular landscape compared to adult thyroid carcinomas (1,2). Pediatric differentiated thyroid carcinoma was mainly caused by fusion oncogenes, especially in children younger than 10 years (93%), compared to children aged 10–15 years (28%) and 15–20 years old patients (14%). In contrast, PTC due to BRAF mutations showed increasing frequency with age (7%, ...

ey0020.3-15 | Advances in Growth, Bone Biology, and Mineral Metabolism | ESPEYB20

3.15. Lymphatic vessels in bone support regeneration after injury

L Biswas , J Chen , J De Angelis , A Singh , C Owen-Woods , Z Ding , JM Pujol , N Kumar , F Zeng , SK Ramasamy , AP Kusumbe

In Brief: Current dogma is that lymphatic vessels are absent in bone and bone marrow. Using advanced 3D-imaging and mouse genetics, these authors show the presence of lymph vessels in bone. Moreover, they show that genotoxic stress causes lymph vessels expansion and lymphangiogenesis in bone, which in turn promotes bone and hematopoietic regeneration.Commentary: The lymphatic system maintains fluid homeostasis, removes cellular waste products and produce...

ey0020.5-2 | Clinical Guidance and Studies | ESPEYB20

5.2. Timing of puberty in relation to semen characteristics, testicular volume, and reproductive hormones: a cohort study

N Brix , A Gaml-Sorensen , A Ernst , LH Arendt , LL Harrits Lunddorf , G Toft , SS Tottenborg , KK Haervig , BB Hoyer , KS Hougaard , JPE Bonde , CH Ramlau-Hansen

Brief summary: This cohort study explored the potential link between self-reported age at puberty and markers of male fecundity.In this article, the authors explored pubertal timing as a determinant of male fecundity. This cohort study was based on the Danish National Birth Cohort which consisted of around 100 000 mother-child pairs recruited during 1996–2002. A little more than 1000 men aged 19 were evaluated for semen volume, sperm concentration, ...

ey0020.10-5 | New Drugs for Children with T2DM | ESPEYB20

10.5. Once-weekly exenatide in youth with type 2 diabetes

WV Tamborlane , R Bishai , D Geller , N Shehadeh , D Al-Abdulrazzaq , EM Vazquez , E Karoly , T Troja , O Doehring , D Carter , J Monyak , CD Sjostrom

Brief summary: This study examined glycemic control following treatment with once-weekly exenatide 2 mg (Bydureon, AstraZeneca) in youth with T2D which was not optimally controlled. At 24 weeks, exenatide was superior to placebo in lowering HbA1c (least squares mean change, −0.36% with exenatide vs. +0.49% with placebo), with a between-group difference of −0.85%.Comment: The story of the development of exenatide is fascinating. It starts with...

ey0020.11-15 | Endocrinology | ESPEYB20

11.15. Genotype, mortality, morbidity, and outcomes of 3[beta]-hydroxysteroid dehydrogenase deficiency in Algeria

A Ladjouze , M Donaldson , I Plotton , N Djenane , K Mohammedi , V Tardy-Guidollet , D Mallet , K Boulesnane , Z Bouzerar , Y Morel , F Roucher-Boulez

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

ey0021.6-4 | DSD - Novel Genes and Mechanisms involved in Gonadal Development | ESPEYB21

6.4. Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias

Y Masunaga , Y Fujisawa , F Massart , C Spinelli , Y Kojima , K Mizuno , Y Hayashi , I Sasagawa , R Yoshida , F Kato , M Fukami , N Kamatani , H Saitsu , T Ogata

Brief Summary: This translational study identifies a new susceptibility region within the estrogen receptor α ( ESR1 ) gene, linked to cryptorchidism (CO) and hypospadias (HS), the most common birth defects of the male genital tract. CO occurs in approximately 1:100 male births and is 3-times more common in premature infants, while HS affects about 1:300 male births. The prevalence of both conditions has increased over the years, with premature infants showing hi...

ey0021.8-3 | Important for Clinical Practice | ESPEYB21

8.3. European Society of Endocrinology and Endocrine Society Joint Clinical Guideline: Diagnosis and Therapy of Glucocorticoid-induced Adrenal Insufficiency

F Beuschlein , T Else , I Bancos , S Hahner , O Hamidi , L van Hulsteijn , ES Husebye , N Karavitaki , A Prete , A Vaidya , C Yedinak , OM Dekkers

Brief Summary: This article presents the joint European Society of Endocrinology and Endocrine Society clinical guideline on the diagnosis and treatment of Glucocorticoid (GC)-induced adrenal insufficiencyComment: The prevalence of oral glucocorticoid (GC) use is ~1% in adults (1). The risk for glucocorticoid-induced adrenal insufficiency is evident. These guidelines provide both endocrinologists and general practitioners with guidance to manage such pat...

ey0021.11-2 | Interventions for Weight Loss: New Findings | ESPEYB21

11.2. Mutations in the leptin-melanocortin pathway and weight loss after bariatric surgery: a systematic review and meta-analysis

N Zhang , H Wang , S Ran , Z Wang , B Zhou , S Wang , Z Li , B Liu , Y Nie , Y Huang , H Meng

Brief Summary: This review evaluated the impact of gene mutations in the leptin-melanocortin pathway on short- and long-term outcomes after bariatric surgery, which is still the most effective treatment for severe obesity. This topic is of high clinical relevance, since such mutations play an important role in hunger regulation and energy homeostasis [1, 2] and may therefore confer weight regain after bariatric surgery [3]. To date there have been few publications, often with ...