ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Int J Endocrinol Metab 2017; 15(3):e55451Systematic neonatal screening for congenital hypothyroidism (CH) was first proposed by Dr Jean Dussault, a Canadian (adult) endocrinologist, in 1974. It was rapidly implemented in most high-income countries in the late 1970’s and 1980’s. Ideally, a screening program should be highly sensitive (able to ...

To read the full abstract: Lancet 2017;389:2473-2481We are all familiar with the ‘placebo’ effect, when the psychological anticipation of a ‘benefit’ of treatment is so strong that it adds to or even outweighs the actual physical benefits. Many doctors have even admitted to prescribing placebo tablets, or “sugar pills” to their patients, for exam...

Brief summary: This is the first multi-national phase 2 dose finding trial aimed at investigating efficacy and safety of the long acting GH (Somapacitan) with daily GH in short children born SGA. 62 GH treatment-naïve short children born SGA were enrolled in the study. Efficacy was valuated with estimated mean annualized height velocity (HV) after 26 weeks of follow-up. Somapacitan showed similar efficacy of daily rhGH. The study will be extended for further 4 years in or...

Brief summary: This study investigated the brain structure in young adult patients with autoimmune Addison’s disease (AAD). It found that patients with AAD had a 4.3% smaller total brain volume but no major differences in subcortical structures compared to healthy controls.Both short- and long-term disruptions in cortisol concentrations and rhythmicity affect brain structure development. Animal studies have shown that both pre- and postnatal disturb...

Brief summary: In this Minireview, one pediatric and one adult case with 21-hydroxylase deficiency (21OHD) are discussed with respect to different clinical questions and steroid biomarkers reflecting their diagnosis, treatment and disease control. Basics of the disease mechanisms with different aspects throughout life (childhood, adulthood, sex, fertility and pregnancy) are discussed to lay grounds for the interpretation and use of laboratory data, including the newer 11-oxyge...

In Brief: The authors analysed data from the nationwide Child and Adolescent Twin Study in Sweden (CATSS) to estimate the heritability of avoidant restrictive food intake disorder (ARFID) as defined by DSM-5 criteria. Of the 16 951 twin pairs born between 1992 and 2010, 682 (2.0%) children were identified to have ARFID. By modelling shared risk in monozygous compared to dizygous twin pairs, they estimated the heritability of ARFID as 79% (95%CI, 70–85).<...

Brief Summary: This comprehensive systematic review and meta-analysis provides crucial insights into the prevalence and diagnostic challenges of central diabetes insipidus (CDI), vasopressin deficiency (AVP-D), following transsphenoidal surgery (TSS) for pituitary tumours.Despite advances in pituitary surgery techniques, posterior pituitary dysfunction remains a common and challenging complication in immediate post-operative management (1). AVP-D is the ...

Brief Summary: This study examined the regulation of thyroid hormone (TH) levels by thyrotropin-releasing hormone (TRH) neurons located in the paraventricular nucleus (PVN) of the hypothalamus in fed and fasted mice. It focused on the role of agouti-related peptide (AgRP)/neuropeptide Y (NPY) neurons in the arcuate nucleus.Using chemogenetic activation in mice, the authors demonstrated that TRH neurons play a direct role in regulating the hypothalamic-pi...

Brief Summary: This study used chemogenetics and transgenic mouse models to show that glutamatergic neurotransmission in leptin responsive neurons in the premammillary nucleus is required for normal puberty and ovulation.Puberty and the acquisition of reproductive functions result from the reawakening of a complex neuroendocrine machinery eventually leading to the activation of GnRH secretion. Metabolic cues play a crucial role in regulating this system ...

Brief Summary: This qualitative study investigated parental communication with their daughters regarding variation in clitoral size related to severity of classical congenital adrenal hyprplasia (CAH). The authors conducted semi-structured in-person interviews with 24 parents of children with a specific genital difference, without direct exploration of parental values regarding the clitoris or the application of adequate psychosocial care.Comment: CAH du...