Pubertal development begins with the pulsatile secretion of gonadotropin-releasing hormone by the hypothalamus. The genetic regulators of the events leading to the initiation of puberty have been a highly productive area of investigation over the past two decades. The discovery and characterization of the GPR54 gene as a regulator of puberty was accomplished by NICHD-supported investigators who elucidated the role of kisspeptin-GPR54 signaling in the regulation of the hypothalamic-pituitary-gonadal axis. This area of investigation has advanced our understanding of the complex biologic process underlying disorders of puberty and its effects on growth and sexual maturation.
Basic research on normal growth and physiological development, including the etiology and therapy of growth retardation are considered highly relevant to our research programs. NICHD-funded investigators are studying the genetic determinants of skeletal deformities. Studies are underway to determine the underlying genetic determinants of bone mass accrual and peak bone mass. Topics of programmatic interest include the study of muscle-bone interactions and the regulators of bone formation. This area of study will provide a greater understanding of bone accrual in childhood. The Branch maintains an interest in the effects of delayed and precocious puberty, hypogonadism, and amenorrhea of various etiologies on the bone in adolescence. The Branch encourages studies of interventions to ameliorate bone density decrements among children with severe chronic illness, such as childhood cancer survivors or children with HIV/AIDS.