ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This retrospective study of 123 Danish girls treated with GnRHa for idiopathic central precocious puberty (CPP) shows that GnRH agonists do not impact body mass index during and after cessation of treatment.The use of GnRH agonists (GnRHa) for treatment of girls with CPP is well established but the potential long term effects of GnRHa remain a matter of debate, especially regarding their impact on weight evolution1,2.<p clas...

Brief Summary: this retrospective study describes clinical and biochemical parameters which, using the principal component analysis, help in the differential diagnosis between idiopathic central precocious puberty (ICPP) and premature thelarche (PT).Breast development in girls before 8 years of age may be related to progressive CPP but can sometimes simply be the consequence of premature thelarche without activation of the hypothalamic-pituitary-gonadal ...

Brief Summary: this longitudinal study found no statistical difference between boys and girls regarding the timing of increase in nocturnal luteinizing hormone concentrations.Puberty results from a gradual increase in GnRH secretion, that can be monitored by urinary gonadotropin measurements. Timing of normal puberty, initially described by Marshal and Tanner, is characterized by an important individual variability in humans1,2. The difference...

Brief Summary: This prospective study of 62 children with Central Precocious Puberty (CPP) concluded that measuring unstimulated luteinizing hormone (LH) may be adequate to assess effective pubertal suppression.Pubertal stages, growth velocity and bone age maturation are considered as key clinical markers to evaluate adequate pubertal suppression in patients treated for CPP. Basal LH concentrations levels also seem to be effective1. This study...

Brief Summary: This international cohort study of 404 patients identified rare likely damaging variants in the gene MECP2 in patients with central precocious puberty. Translational experiments showed that GnRH neurons in mice express Mecp2.Over the last few years, several studies have provided insight into the epigenetic regulation of the onset of puberty1-3. DNA methylation, histone post-translational modifications and non-c...

Brief Summary: This cross-sectional study identifies two pathogenic variants in the Delta-like noncanonical notch ligand 1 ( DLK1 ) gene in a French cohort of 121 children with idiopathic central precocious puberty (CPP).DLK1 is a noncanonical ligand of the Delta Notch pathway known to be involved in adipocyte differentiation. Its hypothalamic expression suggests a potential role in coordinating reproductive and metabolic functions. Pathogenic v...

Brief Summary: this case-control study shows that the common genetic variants that influence pubertal timing in the general population also contribute to constitutional delay of puberty (CDP) and less significantly to normosmic idiopathic hypogonadotropic hypogonadism (IHH).CDP and IHH are two different conditions that are notoriously difficult to distinguish clinically on initial presentation. Because CDP has clear heritability traits1, and h...

Brief Summary: this large patient cohort study identified an overrepresentation of functionally damaging variants in MC3R in individuals with constitutional delay of growth and puberty but not in patients with IHH.Melanocortin 3 receptor (MC3R) is a permissive signal expressed by hypothalamic kisspeptin-neurokinin B-dynorphin (KNDY) neurons. It activates puberty through the leptin-proopiomelanocortin pathway in response to nutritional signaling<...