ESPE Abstracts

Background: Gonadal dysgenesis may be rarely associated with precocious puberty (PP) and development of gonadoblastoma. In these patients cases of peripheral PP have been reported. On the contrary, a central PP has been very rarely described.Objective and hypotheses: To describe a female with central PP associated with a bilateral gonadoblastoma.Results: A 8 year and 5 month old phenotypically female child, presenting suspected PP ...

Background: Empty sella refers to the radiographic appearance of an enlarged or deformed sella turcica and it is considered a rare occurrence in childhood. Many reports have suggested that it is associated with hypothalamic-pituitary dysfunction, with a high prevalence of growth hormone deficiency, as well as multiple pituitary hormone deficiency, idiopathic delayed puberty and isolated diabetes insipidus.Objective and hypotheses: We describe the case of...

Background: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...

Background: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

Introduction: Turner's syndrome (TS) is associated with several manifestations the most frequent being short stature and hypogonadism. Some authors (Nadeem, 2012; Bakalov, 2008) reported that individuals with TS have increased risk of fractures, but the etiology and mechanism of bone fragility have not been yet fully elucidated and may be exacerbated by hormonal factors (Cintron, 2017; Soucek, 2015). Bone densitometry (BD) through the emission of double en...

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

Background: Polybrominated diphenyl ethers (PBDEs) are widely used as flame retardants and have shown endocrine disruption properties in experimental studies. Preliminary studies in animal models have suggested a link between exposure to PBDE and alterations of puberty and reproduction.Objective and hypotheses: To investigate the association between the exposure to PBDEs and alterations of puberty in girls, referred for idiopathic premature thelarche (IP...

Introduction: As COVID-19 spread across Southeast Asia (SEA) in 2020-2021, healthcare systems in Cambodia, Laos and Myanmar braced as public health officials closed many outpatient diabetes clinics and healthcare professionals (HCPS) were redeployed to COVID-treatment zones. Action 4 Diabetes (A4D) is a UK non-profit organisation that has been providing free insulin and medical supplies to LMICs in SEA since 2016. With historically limited healthcare coverage ...

Introduction: The 46,XX testicular disorder of sex development (DSD) is a rare genetic condition and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients, but approximately 20% of patients are SRY-negative. We report a 1.3 -year old SRY/negative 46,XX boy with complete sex reversal caused by SOX3 duplication.Case report:...

Background: Gender incongruence (GI) is a topic of interest with major impacts on both the individual and society. In recent years, the small group of gender non-conforming children with an early GI history that persists through adolescence has been accompanied by a substantial rise in the proportion of adolescents reporting their gender doubts. The onset of gender dysphoria in this group is rapid. In the Czech Republic, multidisciplinary teams strive for high...