The Year in Growth and Short Stature.

The papers and communications selected here, published in 2020-2021, report major advances in pathophysiology, diagnostics, treatment and patient care in the fields of growth hormones and disorders. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

[SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency]. / SF-1, un acteur majeur de la différenciation surrénalienne et sexuelle : implications dans les dysgénésies gonadiques et l'insuffisance ovarienne prématurée.

Steroidogenic factor 1 (SF-1) gene, identified by Keith Parker in 1992, encodes for an orphan nuclear receptor, NR5A1, whose expression is detected during fetal life in adrenal and gonadal steroidogenic tissues, but also in the developing hypothalamus and in pituitary gonadotropic cells. SF-1 knock-out mouse models exhibit complete adrenal and gonadal agenesis. Human mutations of this transcription factor, were initially associated with primary adrenal failure and male gonadal dysgenesis with various degrees of under androgenization. More recently, identification of novel SF-1 mutations responsible for isolated 46, XY gonadal dysgenesis or 46, XX primary ovarian insufficiency, underscores its central role in the control and maintenance of adrenal and reproductive functions. A better understanding in the regulatory mechanisms of SF-1 signaling pathway, will open new avenues for diagnostic and therapeutic managements of sex differentiation disorders and infertilities.

MANAGEMENT OF ENDOCRINE DISEASE: Approach to the management of children and adolescents with Gender Dysphoria.

Over the past 20 years, the care for transgender adolescents has developed throughout many countries following the "Dutch Approach" initiated in the 90's in pioneer countries as the Netherlands, United States and Canada, with increasing numbers of children and adolescents seeking care in transgender clinics. This medical approach has considerable positive impacts on the psychological outcomes of these adolescents and several studies have been recently published underlining the relative safety of such treatments. This paper reviews the current standards of care for transgender children and adolescents with particular emphasis on disparities among countries and short to medium-term outcomes. Finally it highlights ethical considerations regarding categorization of gender dysphoria, timing of treatment initiation, infertility, and how to deal with the long-term consequences.

[Assessment and management of gender dysphoria in children and adolescents]. / Évaluation et prise en charge d'une dysphorie de genre chez l'enfant et l'adolescent.

Gender dysphoria, originally called gender identity disorder, is characterized by the dissociation between one's expressed gender and the gender of rearing as assigned at birth, which generates significant clinical distress and social, academic, and other important forms of isolation. This state is also known as transgender or transsexualism and is recognized as a medical disease. Adults with gender dysphoria can benefit from psychological, medical, and surgical care. However, gender dysphoria rarely occurs in adulthood but rather emerges in childhood or adolescence, generating deep social and academic difficulties, especially at puberty. For the last 10years, the management of gender dysphoria in children and adolescents has developed in several countries, specifically in Europe, but remains under-recognized in France. Since 2013, several pediatric psychiatry and endocrinology departments have initiated a multidisciplinary evaluation and management approach for these patients. This article reviews the clinical criteria helping diagnose gender dysphoria and presents the different steps in the assessment and management of these patients in accordance with international guidelines.