ESPE Abstracts

Context: Diagnosis of non-chromosomal type disorders of sex development (DSD) has long been challenging. There is still no research on overview of a large Chinese DSD cohort.Objective: To determine the etiologic diagnosis through unbiased large-scale panel sequencing and whole-exome sequencing (WES) within a large Chinese DSD cohort.Design: Patients were recruited according to the ...

Disorders of sex development (DSD) refer to a group of congenital diseases with inconsistencies between chromosomal karyotypes, external genitalia, and gonadal development. Diagnosis and management strategy of DSD is difficult and various due to heterogeneous phenotype and genotype. Under widespread use of genomic sequencing technologies, multiple genes and mechanism has been identified and proposed as genetic causes of 46, XY DSD. In this study, 178 46, XY DSD patients were e...

Background and aims: Achieving good glycemic control is a major challenge for adolescents with type 1 diabetes (TID). The introduction of the MiniMed 780G system, an advanced hybrid closed-loop (AHCL), that enables an automatic correction of insulin, gave hope for improved glycemic outcomes in adolescents. We assessed specific characteristics associated with glycemic measures in youth with T1D switching to Minimed 780G.Methods:</...

Objectives: Survivors of childhood acute lymphoblastic leukemia (cALL) present elevated fracture rates compared to the general population. A polygenic risk score for estimated bone mineral density (BMD), named gSOS, validated to predict the risk of adult osteoporotic fracture, has been previously associated with significant fracture risk in childhood. We hypothesized that gSOS could be associated with long-term, bone health-related mobidities in survivors of c...

Loss of function mutations in SGPL1 (sphingosine-1-phosphate lyase) give rise to a multisystemic syndrome with predominating features of primary adrenal insufficiency (PAI) and steroid resistant nephrotic syndrome. Retrospective analysis of our patient cohort and the wider literature also demonstrated primary gonadal insufficiency in a third of male patients with microphallus and bilateral cryptorchidism (all with concomitant adrenal disease and high mortality in infa...

The experiences of older adults with Variations in Sex Characteristics (VSC or Differences/Disorders in Sex Development/DSD) are well documented. However there has been a gap in the literature with respect to representing the voices of younger people. This qualitative research study has been conducted in collaboration with Intersex Trust Aotearoa New Zealand. Ten young people with VSC were recruited via health professionals, intersex advocates, support groups and social media ...

Background: Several studies suggested that hypothyroidism, especially subclinical hypothyroidism (SH), is rather a consequence than one of the causes of excessive weight.Objective and Hypotheses: We analyzed if there is a correlation between serum TSH, free thyroxine (FT4) and anthropometric measures in a group of overweight and obese children.Method: The study included 92 children (46 girls and 46 boys), mean age: 11.79...

Background: Clinical spectrum of 46 XY DSD is characterized by a greatest diversity. Atypical sex development can occur through different steps of testicular differentiation. Etiologies of 46 XY DSD are termed gonadal dysgenesis, hormonal dysfunction and action. Its global incidence is unknown but the most common presentation, hypospadias, is understood to occur in 1 in 125 male births, and complete androgen insensitivity has an incidence of 1:20,000 people.</...

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...