Edition 71 - December 2018 / Editorial

Editorial – Ed. 71

For the 71st edition of Endopedonline we have selected to comment on several issues related to the recent 57TH ESPE (European Society for Pediatric Endocrinology) 2018 Meeting. The venue was in Athens, at the Greece Megaron Conference Centre, where ESPE 2018 recently convened, on September 27-29, 2018. For the Subject Review Section, we have selected to comment on five Plenary Lectures (PL), as well as eleven lectures included in Symposia (S) and other types of presentations. Similarly to previous ESPE Meetings, PL were highlighted (speakers and institutions are cited in the respective sections of this on-line edition). Particularly, we have selected the following PL abstracts: PL1, Oncofertility, “from bench to bedside to babies; facing a cancer diagnosis at any age is devastating. However, young cancer patients have the added burden that life-preserving cancer treatments, including surgery, chemotherapy, and radiotherapy, may compromise their future fertility”. The purpose of this presentation was to delineate the diverse fertility preservation options that are currently available for young women, PL2, oxytocin and the healing power of love. “oxytocin, vasopressin, and their receptors, form an integrated system that is at the heart of the biology of love and attachment”, which is a new role for these hormones, previously known for their physiologic effects on smooth muscle, PL5, “dynamic control of tissue glucocorticoids, lessons for optimizing replacement therapy”, here it was pointed out that rather than circulating hormones in blood, what enters tissues is the most important factor for responses. PL6, personalizing treatments using microbiome and clinical data. The lecturer suggested the possibility of generating personalized treatments using the microbioma. Indeed, a significant portion of the intestinal microbioma variance can be explained by diet, medications, or anthropometry, and not by genetic factors. PL8, Turner syndrome; the new information on prenatal genomics and transcriptomics was discussed. Remarkably, even though positive predictive value (PPV), using maternal or placental serum containing cell-free DNA, is excellent for detecting 21 trisomy prenatally (Down syndrome), it is not good for the 45,X karyotype. Possible explanations and recommendations, in view of this important difference, were discussed.

Moreover, for the present Subject Review Section, we have also included a selection of lectures presented in several Symposia. S1.2, mutations in the transcription factor PROP1 are the most common known cause of hypopituitarism in humans. To discover novel causes of hypopituitarism, exome sequencing on a cohort of 26 unrelated patients with hypopituitarism led to the identification of mutations in known genes as well as novel candidate genes. S1.3, a role for vasopressin in parenting. Parenting is characterized by a complex behavior for all species, particularly humans, and little is still known about the causes and mechanisms by which people differ in their parental behaviors. The speaker reported that when the gland is challenged, pituitary stem cells are mobilized. They studied the genetic, molecular, and neuronal bases of the evolution of parental care in a pair of sister species that have naturally evolved different parental behaviors. S2.1, a discussion on the biology of germ cell tumors in disorders of sex development. A unifying model was presented in which an interaction between the genomic constitution and micro-environment are the actual determinants for the risk of an individual to develop a malignant tumor in the testis. S2.2, validated models for normal and disrupted human testis development were discussed in order to investigate their long-term effects of genetic disruption and environmental exposures on DSD, S3.1, presentation of an International Consensus Statement related to “diagnosis and management of Silver–Russell syndrome: First International Consensus Statement”,  S3.3 Pediatric Obesity—Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline, S3.4 Prevention and Management of Rickets, S4.2 Hypogonadism in Girls after Cancer Therapy: Causes, Diagnosis, and Treatment, followed by S4.3, Diagnosis and Treatment of Hypogonadism in Male Survivors of Childhood Cancer. S6.1. Cardiomyocyte glucocorticoid and mineralocorticoid receptors (GR and MR, respectively) antagonistically regulate heart disease. For this study, mice with cardiomyocyte-specific deletion of GR (cardioGRKO), MR (cardioMRKO), or both GR and MR (cardioGRMRKO) were constructed to study the roles of inactivation of these three types of receptor complexes on cardiac muscle function. Surprisingly, while cardioGRKO mice spontaneously developed cardiac hypertrophy and left ventricular systolic dysfunction, the cardioMRKO mice exhibited normal heart function, and, moreover, the cardioGRMRdKO mice were protected from cardiac disease, S6.2 immune regulation by glucocorticoids. Synthetic glucocorticoids are the most potent anti-inflammatory agents known, but frequent therapeutic use is accompanied by development of severe side effects. Inactive GR is bound by ligand in the cytoplasm and undergoes nuclear translocation, where it binds glucocorticoid response elements (GREs) in the genome to either enhance, or repress gene transcription. Mechanisms to explain how the same molecule can drive gene activation or repression were discussed.

In the Bibliographic Reviews Section (speakers are cited in the respective sections of this issue), we are first commenting on one Meet-the Professor activity, MTE5.1, related to various late side-effects on gonadal function in glucocorticoid-treated children with congenital adrenal hyperplasia (CAH), one of the most severe complications in adult male and female CAH patients is infertility, in males due to the presence of testicular adrenal rest tumours (TART), and in females to adrenal overproduction of steroids, ovarian hyperandrogenism, ovarian adrenal rest tumours, genital surgery, and psychological factors; and various Free Communications, P1-P014, Molecular characterization of TNXA/TNXB chimeras, FC4.1, monogenic and digenic gene mutations present in children with idiopathic short stature, P1-P174, identification of ADAMTS6 as a novel candidate gene for idiopathic short stature with advanced bone maturation, NA2.2, Induction of pancreatic beta-cell neogenesis, WG3.2, SHOX – from gene to growth cartilage,  and P1-P167, improved mental and motor development during 3 years of GH treatment in very young children with Prader-Willi syndrome.

                                

Alicia Belgorosky, MD                                                           Marco A. Rivarola, MD


Posted in Edition 71 - December 2018, Editorial
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