hrp0084p1-117 | Puberty | ESPE2015

Transient Breast Budding in Healthy Girls is a Frequent Phenomenon: Description of Pubertal Progression and Associations to Gonadotropins, Estradiol and FSHB/FSHR Genetic Polymorphisms

Johansen Marie Lindhardt , Hagen Casper P , Mieritz Mikkel G , Petersen Jorgen Holm , Juul Anders

Background: Intermittent breast budding (girls entering stage B2 and then subsequently regressing to B1) in healthy girls is a frequent phenomenon observed by most clinicians. However, little is known of normal progression of female puberty, and the phenomenon of transient breast development has, to our knowledge, never been studied in details.Objective and hypotheses: We present and validate the female Puberty Nomogram indicating age specific SD<...

hrp0086p1-p352 | Gonads &amp; DSD P1 | ESPE2016

A Multicenter Study on Long-Term Outcomes in 56 Males with 45,X/46,XY Mosaicism

Johansen Marie Lindhardt , Acerini Carlo , Andrade Juliana , Balsamo Antonio , Cools Martine , Cuccaro Rieko Tadokoro , Darendeliler Feyza , Fluck Christa E , Grinspon Romina , Guran Tulay , Hannema Sabine , Lucas-Herald Angela K , Hiort Olaf , Lichiardopol Corina , Ortolano Rita , Riedl Stefan , Ahmed S Faisal , Juul Anders

Background: 45,X/46,XY mosaicism is a rare karyotype with a broad phenotypic variation. In patients with a male or predominantly male phenotype, impaired genital development and statural growth have been observed, but little is known about long-term outcomes. Larger multicenter studies are needed.Objective and hypotheses: The aim of this study is to investigate long-term outcomes, namely gonadal function, growth and co-morbidities, in a larger group of m...