ESPE Yearbook of Paediatric Endocrinology

In Brief: Prolonged bisphosphonate treatment is associated with atypical femoral fractures (AFF). However, AFFs also occur in bisphosphonate-naïve patients, so bisphosphonate is not a prerequisite for AFF. This study found a higher yield of (likely) pathogenic variants in AFF patients with a clinical suspicion of monogenic bone disorder, stressing the importance of careful clinical evaluation of patients who present with this condition.Commentary: A...

Brief summary: This multicentre retrospective cohort study evaluated testicular structure in 101 boys aged <14 years with solid tumors, CNS tumors, leukemia/lymphoma, or non-malignant hematological disorders, who were admitted for a fertility preservation programme between 2002 and 2018.The aim of the study was to clarify a possible role of the disease itself on the risk of infertility, independently of cancer therapies. Clinical data, testicular vol...

J Clin Endocrinol Metab, August 2020, 105(8):e2796–e2806. doi: 10.1210/clinem/dgaa287. PMID: 32436961The aim of this longitudinal study was to investigate the potential long-term adverse effects of combined GnRHa/GH treatment on metabolic and bone health in short SGA children. Reassuring data are found at 5 years after cessation of GH therapy.Children born small ...

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...

J Bone Miner Res. 2021 May;36(5):931–941. doi: 10.1002/jbmr.4262. PMID: 33507568.This restrospective study of the Cohort of Gender Dysphoria investigated bone geometry parameters of 106 adolescent trans-women and 216 adolescent trans-men during early and late start of gonadotropin-releasing hormone agonist (GnRHa) and gender affirming hormone therapy (GAHT). Transgender youth who started tr...

Eur J Endocrinol. 2020; 183: 169–180. https://pubmed.ncbi.nlm.nih.gov/32449692/This retrospective study analyzed subsequent differentiated thyroid cancer (DTC) in in a group of CCS (n=31) matched with patients affected by sporadic DTC (n=93) to compare clinical presentation and outcomes. CCS with subsequent DTC were identified by two source populations: the DCOG-LATER cohort o...

Eur Thyroid J. 2022 Jan 1;11(1):e210073. doi: 10.1530/ETJ-21-0073. PMID: 34981748The 2022 European Thyroid Association Guidelines for the management of Graves’ disease in the pediatric age group is an important document summarizing all aspects of the disease, ranging from diagnosis, medical treatment with its advantages and side effects, definitive treatment by thyroidectomy or radioiodine a...

J Clin Endocrinol Metab. 2022 Jun 6:dgac349. PMID: 35666195, doi: 10.1210/clinem/dgac349. Brief Summary: This paper reports the adult height of 161 transgender girls (registered male at birth) from the Amsterdam Cohort of Gender Dysphoria. It finds no difference in adult height between use of standard and high estrogen doses. There is currently very little information on...

LGBT Health. 2022 May-Jun;9(4):238-246. PMID:35475663, doi: 10.1089/lgbt.2020.0494. Brief Summary: This study reports changes in wellbeing and quality of life in 70 adolescents (49 transgender men and 21 transgender women) from the Amsterdam Center for Expertise on Gender Dysphoria. It finds evidence of improvements in functioning on GAH. The purpose of gender-affirming ...

To read the full abstract: Cereb Cortex. 2020; 30(5): 2777–2788. PMID: 31819952.Congenital adrenal hyperplasia (CAH), most commonly caused by 21-hydroxylase deficiency, is an autosomal recessively inherited life-threatening impairment in cortisol and, in the severe salt wasting form, aldosterone synthesis. The implementation of neonatal screening programs for CAH and the continuous imp...