ESPE Abstracts

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: Congenital hypogonadotropic hypogonadism (CHH) provides a model to study the impact of sex steroid deficiency on childhood growth.Aims and objectives: We characterised growth patterns in male CHH patients with special emphasis on growth during the minipuberty of infancy.Methods: Growth charts of 38 men with CHH (28 from Finland and 10 from Denmark) were evaluated. Fifteen (39%) patients had representative length measure...

Background: The anogenital distance (AGD) is defined as the distance from the anus to genital tubercle. AGD is an established method for sex determination of pups in rodents, and in animal studies, AGD is strongly affected by androgen exposure during fetal life. In accordance, human studies have reported reduced postnatal AGD following prenatal exposure to anti-androgenic agents, suggesting AGD to be a sensitive postnatal read out of in utero exposure...

Paternally inherited mutations in the DLK1 (delta-like non-canonical Notch ligand 1) gene cause central precocious puberty (CPP) with a metabolic phenotype, suggesting that DLK1 (Delta-like 1 homolog/Preadipocyte factor 1) may link pubertal timing with body composition. However, little is known about circulating DKL1 in normal and precocious puberty.Objective: To evaluate longitudinal changes in circulating DLK1 concentrations i...

Background: The average age at pubertal onset is declining worldwide which has received a lot of scientific and public attention. This secular trend is accompanied by an increasing number of children diagnosed with precocious puberty in many countries worldwide. However, there is less focus on the secular changes in the upper and lower boundaries (+/- 2 standard deviation (SD)) for pubertal onset and very little is known about whether a secular trend in the in...

Background: Sexual maturation is closely linked to growth, suggesting common pathways between the reproductive development and the growth hormone/insulin-like growth factor-I (GH/IGF-I) axis. IGF-I bioavailability is regulated by Pregnancy associated plasma protein-A (PAPP-A), Pregnancy associated plasma protein-A2 (PAPP-A2) and Stanniocalcin 2 (STC2). A large genome-wide association study (GWAS) identified PAPP-A, PAPP-A2 and STC2 to represent loci strongly a...

Background: Age at onset of puberty exhibits a remarkable variation mirroring nutritional, environmental, socioeconomic and genetic factors. While large genome-wide association studies identified more than hundred genetic loci associated with age at menarche in girls, knowledge on loci associated with age at pubertal onset in boys is sparse. FSHB/FSHR genetic variants have been shown to affect pubertal timing in girls and reproductive parameters in men.<p class="a...

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: Pubertal gynaecomastia is thought to be a clinical sign of an oestrogen-androgen imbalance, affecting up to 60% of boys. In most cases no underlying endocrinopathy can be identified. In boys, Anti-müllerian hormone (AMH) is produced by immature Sertoli cells and circulating level decreases as testosterone increases during pubertal maturation. In a previous cross sectional study we found significant lower levels of AMH in boys with pubertal gynaecomastia (Mieri...

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...