ESPE Abstracts

Human growth is a very complex phenomenon that is influenced by genetic, hormonal, nutritional and environmental factors from fetal life throughout puberty. Although the GH-IGF axis clearly has a central role in this process, with specific actions on longitudinal growth, numerous other genes are also involved in determining stature. Indeed, genome-wide association studies have identified >600 variants associated with human height, but this still only explains a small fract...

SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. In addition, SHOX deficiency contributes to the skeletal features in Turner syndrome. Causative SHOX mutations have allowed downstream pathology to be linked to defined molecul...

Childhood onset of growth hormone deficiency (GHD) is a clinically heterogeneous condition and defining its cause is important for diagnostics and treatment. The most common genes implicated in the genetic etiology of growth hormone deficiency (GHD) are GH1 (MIM: 139250), encoding growth hormone (GH), and GHRHR (MIM: 139191), encoding the receptor for GHRH. GHD may also result from mutations in genes that encode transcription factors involved in pituitary dev...

Sex-steroid hormones such as testosterone and estradiol play a key role in sexual differentiation during gestation but exert also strong effects on the body and the brain during puberty or even in adulthood. In addition, influences on cognition and emotional processing are frequently reported. The investigations of transgender people undergoing cross-sex hormone therapy provide a unique model for studying those effects on gray and white matter brain structure in vivo by using ...

I review the mental health difficulties that transgender and gender diverse children and adolescents may present with, specifically emotional difficulties. Many studies reveal depression scores and parent and self-reported measures of emotional and behavioral problems that are comparable to mental health clinic referred populations. Children and adolescents who feel that they are acknowledged and supported in their gender diverse feelings, e.g. by receiving gender affirming me...

This presentation briefly gives an overview of typical gynaecological issues and fertility options of transgender adolescents.Typical gynaecological complaints and treatment options will be addressed: e.g. amenorrhea induction prior to cross-sex hormones, irregular bleeding, dysmenorrhea, vaginal discharge but also the limitations of gynaecological examination in female asssigned adolescents.National and international organizations...

The generation of functional, long-lived adrenocortical cells through reprogramming from pluripotent stem cells or via lineage conversion strategies, could offer an alternative treatment modality for adrenal insufficiency (AI) due to a variety of causes, such as mutation in steroidogenic enzymes as seen in congenital adrenal hyperplasia (CAH). The recent generation of human induced steroidogenic cells (hiSCs) from fibroblasts, blood- and urine-derived cells established from he...

Primary adrenal insufficiency (PAI) is an important diagnosis to make as it is potentially life-threatening and requires urgent treatment. Although most paediatric endocrinologists have experience of more common conditions such as congenital adrenal hyperplasia (CAH) and autoimmune adrenal insufficiency, more than 30 other genetics causes of PAI exist, as well as physical causes such as haemorrhage. Reaching a specific diagnosis for some of these rarer conditions can have impo...

While it had been widely believed at the end of last century that most problems in steroid metabolism had already been solved, and not much more significant discoveries were to be expected anymore, recent exciting observations and rediscoveries have initiated a renaissance in steroid metabolism research. These revolutionary findings have often been initially made in animals and have also significantly been driven by new steroid analytical techniques based on mass spectrometry....

Patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), develop autoantibodies to multiple self-proteins. The patients have high titer autoantibodies to multiple cytokines, most prominently to type 1 interferons and cytokines associated with Th17 cell functions. In addition to these signature autoantibodies, APECED patients develop autoantibodies to many other self-proteins characteristic to autoimmune diseases and display broad autoantibody repe...