ESPE Abstracts

Introduction: Pediatricians are becoming key figures for gender dysphoric persons, as the number of children seeking information or treatment for gender dysphoria rises. Puberty suppression and affirming approach, have been shown to improve both psychological functioning and physical outcome. However, recent data show that most children referred were too old to receive this treatment. One barrier that can preclude appropriate care is pediatricians’ attitudes towards trans...

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

Background: Dysregulation of phosphate homeostasis in diseases such as tumor-induced osteomalacia and chronic kidney disease are often associated with impairment of musculoskeletal tissue function. While various factors such as intracellular calcium levels and dysegulated endocrine mechanisms are thought to contribute, the role of single factors such as phosphate and its main regulating hormone FGF23 are only partly revealed.Objective and hypotheses: Ino...

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

Introduction&Aim: Activation of mechanistic target of rapamycin (mTOR) as a major regulator of adipogenesis and lipid accumulation is controlled by upstream regulators hamartin/tuberous sclerosis complex (TSC) 1 and tuberin/TSC2. Hamartin and tuberin form a protein complex that inhibits signal transduction to mTOR. The impact of TSC1 deficiency is not clearly defined in human adipose tissue. We identified a likely pathogenic TSC1 splicing variant in a lipo...

Object: To raise the awareness of clinical manifestations about vasculitis-related moyamoya syndrome by summarizing the clinical characteristics of a girl with central precocious puberty, vasculitis-related moyamoya syndrome and reviewing the literature. Method: We carried on the review analysis to the patient with central precocious puberty, vasculitis-related moyamoya syndrome and reviewed the literature. Result: The bilateral breast development was the prim...

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...

Introduction: Delayed puberty is defined as the absence of the development of sexual characteristics beyond the age of 14 for boys and 13 for girls. To better understand this pathology, we conducted a retrospective study over a period of 7 years; between 2013 and 2020, involving 11 patients with a delayed puberty, followed by a pediatric endocrinology consultation at the children’s hospital Ibn Sina in Rabat.Patients:</stro...

Introduction: Delayed puberty is defined as the absence of the development of sexual characteristics beyond the age of 14 for boys and 13 for girls. To better understand this pathology, we conducted a retrospective study over a period of 7 years; between 2013 and 2020, involving 11 patients with a delayed puberty, followed by a pediatric endocrinology consultation at the children’s hospital Ibn Sina in Rabat.Patients:</stro...