ESPE Abstracts

The transient activation of the hypothalamus-pituitary-gonadal (HPG) axis shortly after birth has been described as early as in the 70ies. This discovery has since been applied clinically as a ‘window of opportunity’ for diagnostic evaluation of patients suspected of endocrine disorders and differences of sex development. With the advent of increasingly more sensitive and specific analytical methods for peptide and steroid hormones produced in the pituitary, gonads...

Background: Anti-Müllerian hormone (AMH) is produced by small growing ovarian follicles. It inhibits both FSH induced maturation of follicles as well as aromatase activity. Genetic variation of AMH signalling is associated with age at menopause and circulating oestradiol levels, i.e. AMH rs10407022 T>G (intragenic) and AMHR2 rs11170547 C>T (putative enhancer).Objective and hypotheses: This present study aims to investigate ...

Background: Normal function of the thyroid gland is essential for adequate neurological development of the fetus and child. In previous studies, associations between reduced birth weight and overt maternal and fetal thyroid dysfunction have been described. We hypothesize that also variations within the normal range of fetal thyroid function have an impact on fetal and neonatal growth.Objective: The aim of this study is to investigate whether thyroid horm...

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: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

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: Anti-Müllerian hormone (AMH) is produced by granulosa cells in small follicles prior to gonadotropin dependent growth and serum levels reflect the number of small antral follicles. There are currently no longitudinal data of individual AMH levels from infancy to adolescence.Aim: To evaluate whether AMH in infancy and childhood is associated with AMH levels and ovarian morphology peripubertal and in adole...

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 ...