ESPE Abstracts

Introduction: The Wilms tumor suppressor gene 1 (WT1) plays an essential role in urogenital and kidney development. Heterozygous germline mutations in WT1 have been classically associated with Denys–Drash (DDS) and Frasier syndrome (FS). Exonic missense mutations in the zinc-finger region are the cause of DDS and mutations affecting the canonic donor KTS splice site of intron 9 are the cause of FS. New phenotypes, as 46,XX testicular DSD...

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

Background: The diagnosis of 46,XY disorder of sex development (DSD) due to 5-alpha reductase 2 (5α-RD2) deficiency has been based on testosterone:dihydrotestosterone (T:DHT) ratio, urinary steroid profiling and mutational analysis of SRD5A2 gene. The biochemical hallmarks of 5α-RD2 deficiency include increased T:DHT ratio. However, several difficulties are observed in the DHT measurement leading to misdiagnosis. The mutational analysis of the SRD5A2 has been propose...

Purpose: Low areal bone mineral density (aBMD) is a well-known consequence of anorexia nervosa (AN). However, the impact of reduced energy expenditure on bone metabolism is unknown. This study assessed the effects of energy deficiency on bone remodelling and its potential interactions with glucose homeostasis and adipose tissue-derived hormones in AN, a clinical model for reduced energy expenditure.Methods: 50 women with AN and 50 age-matched controls (m...

Introduction: Higher evening cortisol level has been previously described in very preterm infants, possibly reflecting increased Hypothalamic-Pituitary-Adrenal Axis (HPA) tone or alterations in HPA regulation throughout the day. These relatively subtle differences in HPA axis function in preterm compared to full-term children may become meaningful in terms of metabolic risk later in life if sustained over time. Still, only a few studies have investigated wheth...

Context: Differences in sex development (DSD) represent a broad spectrum of conditions that can present at different ages to various healthcare professionals with different backgrounds.Design: This is a retrospective, observational cohort that includes all DSD subjects referred to a multi-professional DSD team over a period of 41 years (from 1980 to 2021).Participants: A total of 6...

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...

Background/Aims: Magnetic resonance imaging (MRI) is used to investigate the etiology of growth hormone deficiency (GHD). There is a close relationship between structural changes in the pituitary gland and clinical status.We aimed to investigate the relationship between MRI findings and clinical symptoms and treatment response in children with GHD.Methods: The study was conducted in nine Department...