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). In females, hypergonadotropic hypogonadism resulting in delayed puberty, primary or secondary amenorrhea, and infertility is common ( 9 , 10 ) and severely impairs quality of life ( 11 ). The age of POI onset varies widely. Many pathophysiological

Introduction Constitutional delay in growth and puberty (CDGP) is the most common cause of short stature and puberty delay in boys ( 1 , 2 , 3 , 4 ). This condition is considered as a normal variation, and affected individuals typically

year after surgery than after 1 year on mitotane (1.6 (±0.4) vs −0.2 (±0.6), respectively; P  = 0.006). Among the 17 patients who had reached the average age of onset of puberty (girls over 11 and boys over 12 years of age) at diagnosis, 15 presented

Introduction Testosterone (T) promotes maturation of the male reproductive organs, development of secondary sex characteristics and production of sperm by the testes. In puberty in boys, pulsatile gonadotropin stimulation upon reactivation of

HSD3B2 mutations ( 1 , 2 , 5 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 29 ). Most of them entered puberty spontaneously. The explanation relies on a potential accumulation above the enzymatic deficit of delta 5-steroids

Introduction Central puberty is a major reproductive hallmark where sexual maturation is achieved. It is initiated in the brain by reactivation of the hypothalamic–pituitary–gonadal (HPG) axis. The HPG axis is initially and transiently

puberty, and thereafter start to rise again until early adulthood ( 2 , 3 , 4 ). The mechanism for the decline in SHBG during puberty is not clear, but is likely driven by other factors in addition to sex steroids since SHBG levels also decline in boys

role of IGF1 in the management of patients with delayed puberty or hypogonadotropic hypogonadism. It is concerning that the evidence in humans is scarce, as the IGF1R knockout is incompatible with life. The human phenotype that is closest to the animal

Introduction The first physical signs of puberty in boys and girls are testicular enlargement and breast budding, respectively ( 1 ). Typically, these signs appear at 11–12 years of age in boys and at 9–10 years of age in girls ( 1 ). Several

association between TBX3 variants with isolated hypogonadotropic hypogonadism (IHH), signs of hypogonadism, including bilateral cryptorchidism, micropenis and delayed puberty, have been repeatedly reported among patients with UMS ( 3 , 4 , 5 , 6 , 7 , 8