ESPE Yearbook of Paediatric Endocrinology

Brief summary: PTEN hamartoma tumor syndrome is one of five well known genetic syndromes associated with differentiated thyroid carcinoma (1,2). PTEN hamartoma tumor syndrome comprises four different entities: Cowdwn syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome caused by mutations in the PTEN (phosphatase and tensin homologue) tumor suppressor gene [3]. This prospective longitudinal mu...

To read the full abstract: BMJ. 2017 Jun 30;357:j2963This group of 5 transgender and non-medical professional authors has written a unique “What Your Patient is Thinking” article published in the BMJ. Their aim was to tell health care providers, and others who manage transgender people, how they want to be received and treated and what went wrong in many previous meetings with the healt...

Brief summary: In this retrospective clinical study Ehua AM et al., reports the diagnostic and management characteristics of 13 individuals whose karyotype could be studied out of 33 DSD patients, followed over 17 years by 2 pediatric surgery departments in Abidjan.Serum testosterone could be measured only in 9 of 13 patients. Four patients were treated medically with topical androgen only. One patient had feminizing genitoplasty, and 2 had masc...

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

Thyroid. 2021;31:202–207. doi: 10.1089/thy.2020.0253.This study describes a new genetic thyroid disease that might be unnoticeable in individuals with normal thyroid synthetic capacity, but may cause harm in all patients who are dependent on levothyroxine substitution such as congenital hypothyroidism, acquired hypothyroidism, or post-thyroidectomy.Three iodothyro...

Thyroid. 2022 Feb;32(2):196-205. doi: 10.1089/thy.2021.0304. Epub 2021 Dec 31. PMID: 34641706Brief Summary: This phase 1, double-blind, randomized, single-dose, placebo-controlled, crossover study compared pharmacokinetics, pharmacodynamics, incidence of adverse events, and sleep pattern between the routinely used L-triiodothyronine (LT3) and a newly developed metal-coordinated form of LT3 (pol...

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,3 (2020):754–768. doi: https://academic.oup.com/jcem/article/105/3/754/5624050The authors used state-of-the-art liquid chromatography tandem mass spectrometry to establish sex-specific reference ranges for estrone (E1) and estradiol (E2) throughout life and evaluate sex-differences.</...

To read the full abstract: J Bone Miner Res 2018;33(7):1260-1271Osteogenesis imperfecta (OI) is characterized by early-onset skeletal fragility, often short stature, blue sclerae and some other features. OI is caused by mutations in the two genes encoding type I collagen, namely COL1A1 and COL1A2. Some previous reports have indicated that when the mutation involves the C-propeptide cleavage site in e...

To read the full abstract: J Pediatr. 2019 Dec;215:192–198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

Brief summary: This cross-sectional study provided evidence regarding the usefulness of serum IGF-1/IGFBP-3 ratio as a marker for the diagnosis of GHD in children.Diagnosis of growth hormone deficiency (GHD) is still challenging, due to the insufficient specificity of GH stimulation tests. Serum IGF-1, IGFBP-3, and their combination have been proposed as an alternative to GH stimulation tests. However, despite relatively high specificity, their validity ...