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Isabelle Flechtner, Magali Viaud, Dulanjalee Kariyawasam, Marie Perrissin-Fabert, Maud Bidet, Anne Bachelot, Philippe Touraine, Philippe Labrune, Pascale de Lonlay, and Michel Polak

). 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

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Farzaneh Rohani, Mohammad Reza Alai, Sedighe Moradi, and Davoud Amirkashani

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

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Emmanuelle Motte, Anya Rothenbuhler, Stephan Gaillard, Najiba Lahlou, Cécile Teinturier, Régis Coutant, and Agnès Linglart

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

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Annette Mouritsen, Alexander Siegfried Busch, Lise Aksglaede, Ewa Rajpert-De Meyts, and Anders Juul

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

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Bruno Donadille, Muriel Houang, Irène Netchine, Jean-Pierre Siffroi, and Sophie Christin-Maitre

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

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Kristian Almstrup, Hanne Frederiksen, Anna-Maria Andersson, and Anders Juul

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

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Shenglong Le, Leiting Xu, Moritz Schumann, Na Wu, Timo Törmäkangas, Markku Alén, Sulin Cheng, and Petri Wiklund

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

Open access

Rossella Cannarella, Andrea Crafa, Sandro La Vignera, Rosita A Condorelli, and Aldo E Calogero

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

Open access

Maki Igarashi, Tadayuki Ayabe, Kiwako Yamamoto-Hanada, Keiko Matsubara, Hatoko Sasaki, Mayako Saito-Abe, Miori Sato, Nathan Mise, Akihiko Ikegami, Masayuki Shimono, Reiko Suga, Shouichi Ohga, Masafumi Sanefuji, Masako Oda, Hiroshi Mitsubuchi, Takehiro Michikawa, Shin Yamazaki, Shoji Nakayama, Yukihiro Ohya, and Maki Fukami

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

Open access

Elena Galazzi, Paolo Duminuco, Mirella Moro, Fabiana Guizzardi, Nicoletta Marazzi, Alessandro Sartorio, Sabrina Avignone, Marco Bonomi, Luca Persani, and Maria Teresa Bonati

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