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: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations of reproductive hormones. This period, termed minipuberty, promotes masculinization, including testicular, and penile growth, as well as further testicular descent in males. It appears to be essential for priming specific cell types, i.e. Sertoli-, Leydig-, and germ cells, including subsequent growth and maturat...

Context: The early activation of the hypothalamic-pituitary-gonadal axis during infancy can be used in the evaluation of infants suspected of disorders of sex development (DSD). However, few data exists on sex-specific reference ranges for these hormones during early life.Objective: To evaluate sex-differences in reproductive hormone concentrations in serum from healthy infants in order to define sex-specific cut-off values and to apply these in infants ...

Background: Minipuberty denotes a transient activation of the hypothalamic-pituitary-gonadal (HPG) hormone axis in infancy. This activation provides an opportunity to examine the gonadal function in infants suspected of hypogonadism before the axis is silenced during childhood. However, female minipuberty remains poorly elucidated. Objective: The study aimed to evaluate dynamic changes in luteinizing hormone (LH), follic...

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

Background: The anogenital distance (AGD) is considered a valid marker of altered androgen action in utero. Recently, reduced AGD has been shown in males with hypospadias, cryptorchidism, reduced semen quality and infertility. It has also been proposed as a new marker to be used by clinicians when managing patients with Disorders of Sex Development. However, little normative data exist and measurement methods vary.Objective and hypotheses: We established...

Background: Wiedemann Steinert Syndrome (WSS) is characterized by distinctive facial features (hypertelorism, thick eyebrows, long philtrum, broad nasal bridge), growth retardation, and intellectual disability of varying degrees. Affected individuals are often born small for their gestational age and have generalized hypertrichosis. Some have growth hormone deficiency, usually partial with normal pituitary MRI. The disease is caused by autosomal dominant varia...

Type 1 diabetes is one of the most challenging long-term conditions to manage. On an average day the person with diabetes is expected to check their glucose multiple times, plan their dietary intake so that they are able to administer the calculated dose of insulin, via an insulin pump or injection, 15 minutes before the meal. They need to constantly strive for optimal glucose levels but the inherent variability in insulin requirements means that this often results in debilita...

Introduction: Transdermal estrogen replacement therapy in girls with hypogonadism is well known for induction of the puberty. Sexual development due to exogenous exposure for sex steroids in food, environment or medication is known, but is rare and sparsely reported. We present a case of peripheral precocious puberty in a 3-year-old girl due to inadvertent exposure to an estradiol gel used by her father as gender affirming hormone therapy (GAHT).<p class="...