ESPE Abstracts

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...

Background: There is a rise in overweight and obesity among children and adolescents with type 1 diabetes (T1D) in parallel with a rise in the metabolic syndrome (MS) among children and adolescents in general.Objective: The aim of the study was to describe the prevalence and characteristics of the MS in children and adolescents with T1D compared to their healthy counterparts.Design and Sett...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...

Background: Paediatric transgender individuals are reported, as adults, to be disproportionately affected by barriers to care, mental health problems, suicide, violence, discrimination, poverty, and HIV compared to the general population possibly due to stigma and discrimination (1). Knowing the denominator of people at risk is necessary for assessing the incidence of diseases, setting medical priorities and goals, and advocating for care programs (1).Ob...

Background: Aurantiasis cutis is a condition of yellowish or golden skin discoloration that can result from eating excessive amounts of foods containing carotene leading to hypercarotenemia, described causing secondary amenorrhea.Objective and hypotheses: Hypercarotenemia can cause secondary amenorrhea without overconsumption of excessive quantities of carotene.Method: A 16-year-old girl presented to our endocrine outpatient clinic...

Introduction: Delayed puberty in boys, defined as lack of pubertal onset by the age of 14 years, is often constitutional and self-limited. However, it can lead to feelings of sadness and anxiety. The long-term health consequences of delayed puberty in males are not well understood.Objective: To study the long-term morbidity in young men exposed to delayed puberty.Methods: All Swedi...

Background: Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth and other clinical features. Overgrowth may be apparent at birth and can be static or progressive. Some syndromes are associated with increased tumor risk.Objective and hypotheses: A 6-year-old girl with accelerated growth rate was referred. She was born at term and was 55 cm long at birth (+2.4 SD). At 6 years, she was 134.4 cm tall (+3.7 SD) with ...

Background: Jansen’s Metaphyseal Chondrodysplasia is a rare autosomal dominant condition caused by activating mutations in the parathyroid hormone/parathyroid hormone related peptide receptor (PTH1R). It is associated with persistent PTH-independent hypercalcemia and hypercalciuria from an early age. Our patient, a 2 year old boy with genetically proven Jansen’s Metaphyseal Chondrodysplasia, developed bilateral medullary nephrocalcinosis secondary to persistent hyper...

Background: Early growth trajectories are associated with childhood BMI and fat distribution as well as adulthood type 2 diabetes. Mechanisms by which early growth determines later adiposity remain unclear, but the effect may be mediated through adipocytokines.Objective and hypotheses: We describe the association between infant growth, adolescent fat distribution and serum adipocytokines. We hypothesize that poor or rapid early growth is associated with ...

Background: Vitamin D deficiency can cause rickets and impaired bone growth in infants. In India, randomization to higher vitamin D supplementation doses in pregnancy led to decreased anterior fontanelle and increased head circumference at 0 and 9 months.Objective and hypotheses: To investigate the impact of cord 25-hydroxyvitamin D (25(OH)D) concentrations on cranial measures.Method: In a Danish prospective birth cohort of 2549 mo...