Results 61 to 70 of about 23,463 (198)

CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder, Suzanna E. L. Temple, Niall Jefferson, David Brown, Kasee Stratton‐Gadke, Madelene Rich, Steve Rose, Kim Blake   +7 more
wiley   +1 more source

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Frontiers in Genetics
Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700).
Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, Paula Scaglia, María Esnaola Azcoiti, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, Rodolfo A. Rey, Rodolfo A. Rey, María Gabriela Ropelato, María Gabriela Ropelato   +18 more
doaj   +1 more source

The Changing Landscape of Metabolic and Bariatric Surgery: Aligning Access With the Clinical Obesity Framework

Obesity Reviews, EarlyView.
ABSTRACT Metabolic and bariatric surgery (MBS) is the most effective treatment for severe obesity, yet it remains profoundly underutilized. Patients seeking MBS face pretreatment requirements, including mandatory psychological evaluation, documented failed diet attempts, and months of lifestyle interventions that are substantially more extensive than ...
Francesco Saverio Papadia, Ricardo Vitor Cohen, Paolo Bernante, Mirto Foletto   +3 more
wiley   +1 more source

Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism [PDF]

Obstetrical & Gynecological Survey, 2012
Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B ...
Topaloglu, A. Kemal, Tello, Javier A., Kotan, L. Damla, Ozbek, Mehmet N., Yilmaz, M. Bertan, Erdogan, Seref, Gurbuz, Fatih, Temiz, Fatih, Millar, Robert P., Yuksel, Bilgin   +9 more
openaire   +3 more sources

Psychological Aspects of Congenital Hypogonadotropic Hypogonadism

Frontiers in Endocrinology, 2019
Congenital hypogonadotropic hypogonadism/Kallmann syndrome (CHH/KS) is a rare, treatable form of infertility. Like other rare disease patients, individuals with CHH/KS frequently experience feelings of isolation, shame, and alienation.
Andrew A. Dwyer, Andrew A. Dwyer, Neil Smith, Richard Quinton   +3 more
doaj   +1 more source

Testicular histopathology and its association with germ cell numbers, serum concentrations of reproductive hormones, and semen quality

Andrology, Volume 14, Issue 8, Page 2388-2400, November 2026.
Abstract Background It is well‐established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well‐described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.
Gülizar Saritas, Nina Mørup, Trine H. Johannsen, Anders Juul, Lise Aksglaede, Sofia B. Winge, Kristian Almstrup   +6 more
wiley   +1 more source

Echocardiographic evaluation in patients with hypogonadotropic hypogonadism

, 2001
OBJECTIVE: To assess cardiac function in patients with hypogonadotropic ...
Erdol, C, Baykan, M, Durmus, I, Gokce, M, Celik, S, Erem, C   +5 more
core   +1 more source

Evaluating the Combination of Human Chorionic Gonadotropin and Clomiphene Citrate in Treatment of Male Hypogonadotropic Hypogonadism: A Prospective Study

Research and Reports in Urology, 2021
The Son Trinh,1 Nguyen Ba Hung,2,3 Le Thi Thu Hien,2 Ngo Anh Tuan,4 Dinh Cong Pho,5 Quan Anh Dung,6 Duc Anh Do,7 Ha Duc Quang,2 Hoang Van Ai,1 Pham Ngoc Hung8,9 1Military Institute of Clinical Embryology and Histology, Vietnam Military Medical University,
Trinh TS, Hung NB, Hien LTT, Tuan NA, Pho DC, Dung QA, Do DA, Quang HD, Ai HV, Hung PN   +9 more
doaj  

Human biomarker navigator

iMeta, Volume 5, Issue 5, October 2026.
The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li, Qian Zhang, Zijie Wang, Zeping Gui, Jing Liu, Jingda Li, Maojun Jiang, Zukang Chang, Qingqing Han, Bendong Yang, Tariq Saeed, Jun Li, Jinghan Jia, Chenghu Song, Tong Shao, Tianhuan Peng, Xueying Zhang, Pingping Guo, Jun Luo, Gangao Yang, Yuan Wan, Gokhan Zengin, Quan Yuan, Lingru Li, Xiaohui Fan, Yang Luo, Lvyun Zhu, Yanfei Zheng, Wenjun Mao, Wenlong Sun   +29 more
wiley   +1 more source

Hypogonadism in thalassemia major patients

Journal of Clinical & Translational Endocrinology, 2016
Despite recent advances in iron chelation therapy, excess iron deposition in pituitary gonadotropic cells remains one of the major problems in thalassemic patients.
Sasima Srisukh, Boonsong Ongphiphadhanakul, Pongamorn Bunnag   +2 more
doaj   +1 more source