Diagnosis of delayed puberty] |
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Authors: | K Busiah V Belien N Dallot M Fila J Guilbert A Harroche J Leger |
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Affiliation: | 1. Pediatric Urology Research Center, Department of Pediatric Urology, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran;2. Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, MA;1. Université Paris-Sud, Orsay 91400, France;2. Service d’endocrinologie et des maladies de la reproduction, hôpital Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France;3. Service de génétique moléculaire, pharmacogénétique et hormonologie, hôpital Bicêtre, Assistance publique-Hôpitaux de Paris, 94275 Le Kremlin-Bicêtre, France;4. Service d’endocrinologie, hôpital Saint-Antoine, Assistance publique-Hôpitaux de Paris, 75012 Paris, France;5. Université Pierre-et-Marie-Curie, 75006, Paris, France;6. INSERM UMR-1185, faculté de médecine Paris-Sud, 94276 Le Kremlin-Bicêtre, France |
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Abstract: | Puberty is the phenomenon that conducts once to reproductive maturation. Delayed puberty (DP) is defined by the absence of testicular development in boys beyond 14 years old (or a testicular volume lower than 4 ml) and by the absence of breast development in girls beyond 13 years old. DP occurs in approximatively 3% of cases. Most cases are functional DP, with a large amount of constitutional delay of puberty. Others etiologies are hypogonadotrophic hypogonadism like Kallmann syndrome, or hypergonadotrophic hypogonadism. Turner syndrome is a diagnostic one should not forget by its frequency. Treatment is hormonal replacement therapy and of the etiology. During the last decade, many genes have been identified and elucidated the etiological diagnosis of some hypogonadotrophic hypogonadism syndrome. Further studies are required in collaboration with molecular biologists to better understand the mechanism of hypothalamic pituitary gonadal axis abnormalities and of the neuroendocrine physiology of the onset of puberty. |
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