Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Delaney Angela, Volochayev Rita, Meader Brooke, Lee Janice, Almpani Konstantinia, Noukelak Germaine Y, Henkind Jennifer, Chalmers Laura, Law Jennifer R, Williamson Kathleen A, Jacobsen Christina M, Buitrago Tatiana Pineda, Perez Orlando, Cho Chie-Hee, Kaindl Angela, Rauch Anita, Steindl Katharina, Garcia Jose Elias, Russell Bianca E, Prasad Rameshwar, Mondal Uttam K, Reigstad Hallvard M, Clements Scott, Kim Susan, Inoue Kaoru, Arora Gazal, Salnikov Kathryn B, DiOrio Nicole P, Prada Rolando, Capri Yline, Morioka Kosuke, Mizota Michiyo, Zechi-Ceide Roseli M, Kokitsu-Nakata Nancy M, Tonello Cristiano, Vendramini-Pittoli Siulan, da Silva Dalben Gisele, Balasubramanian Ravikumar, Dwyer Andrew A, Seminara Stephanie B, Crowley William F, Plummer Lacey, Hall Janet E, Graham John M, Lin Angela E, Shaw Natalie D
Аннотация
OBJECTIVE: The objective of this work is to determine the potential for normal reproductive function in the setting of completely absent internal and external olfactory structures.
METHODS: We conducted comprehensive phenotyping studies in 11 patients with congenital arhinia. These studies were augmented by review of medical records and study questionnaires in another 40 international patients.
RESULTS: All male patients demonstrated clinical and/or biochemical signs of GnRH deficiency, and the 5 men studied in person had no luteinizing hormone (LH) pulses, suggesting absent GnRH activity. The 6 women studied in person also had apulsatile LH profiles, yet 3 had spontaneous breast development and 2 women (studied from afar) had normal breast development and menstrual cycles, suggesting a fully intact reproductive axis. Administration of pulsatile GnRH to 2 GnRH-deficient patients revealed normal pituitary responsiveness but gonadal failure in the male patient.
CONCLUSIONS: Patients with arhinia teach us that the GnRH neuron, a key gatekeeper of the reproductive axis, is associated with but may not depend on olfactory structures for normal migration and function, and more broadly, illustrate the power of extreme human phenotypes in answering fundamental questions about human embryology.