Results 81 to 90 of about 278,652 (177)

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

A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures

Case Reports in Endocrinology, 2017
While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures.
Suhaib Radi, Andrew C. Karaplis
doaj   +1 more source

Iron and Other Metal Ions in Human Health and Disease

MedComm, Volume 7, Issue 10, October 2026.
Iron, copper, zinc, and calcium orchestrate cellular function through distinct yet cooperative mechanisms: redox‐active iron and copper cycle between oxidation states to act as Fenton catalysts and electron carriers in oxidative phosphorylation (OXPHOS); redox‐inert zinc serves as a structural component of zinc‐finger proteins and a catalytic cofactor ...
Xiaofeng Dai, Jitian Li
wiley   +1 more source

Unexpected difficult airway with hypogonadotropic hypogonadism

, 2014
Ferda Yaman,1 Bengi Arslan,2 Ercan Yuvanç,3 Ünase Büyükkoçak1 1Anesthesiology and Reanimation Department, 2Otorhinolaryngology Head and Neck Surgery Department, 3Urology Department, Faculty of Medicine, Kirikkale University ...
Arslan B., Yaman F, Arslan B, Büyükkoçak U., Yaman F., Yuvanç E., Yuvanç E, Büyükkoçak Ü   +7 more
core   +1 more source

Boosting Male Fertility: The Impact of Gonadotropin Therapy on Hypogonadotropic Hypogonadism—A Systematic Review and Meta‐Analysis

Andrology, Volume 14, Issue 7, Page 1971-1987, October 2026.
ABSTRACT Background Male hypogonadotropic hypogonadism typically presents with azoospermia and is one of the few causes of infertility amenable to a medical intervention. Gonadotropin therapy offers a chance to restore spermatogenesis and fertility in these individuals.
Manou Huijben, Anne Prinsen, Laetitia de Kort, Jetske van Breda   +3 more
wiley   +1 more source

Testicular Biopsies in Adolescent and Adult Andrological Patients: The EAA Clinical Guidelines

Andrology, Volume 14, Issue 7, Page 1906-1928, October 2026.
ABSTRACT Background Histological evaluation of testicular tissue is central to the assessment of infertile men, particularly those at an increased risk of testicular germ cell tumors (TGCT). Traditionally, testicular biopsies have been used primarily for diagnostic purposes, such as the detection of germ cell neoplasia in situ (GCNIS). With advances in
Lise Aksglaede, George Kanakis, Ewa Rajpert‐De Meyts, Davor Jezek, Ferran Algaba, Gert Dohle, Jolanta Slowikowska‐Hilczer, Sabine Kliesch, Hermann M. Behre, Csilla Krausz, Dimitrios G. Goulis, Niels Jørgensen   +11 more
wiley   +1 more source

Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum

Journal of Neuroendocrinology, Volume 38, Issue 10, October 2026.
Abstract To describe clinical presentation and genetic findings in a cohort of infants with congenital hypogonadotropic hypogonadism (CHH) diagnosed before 2 years of age. From a large cohort of patients who underwent next‐generation sequencing (NGS) for CHH between 2019 and 2025, we identified all patients tested at ≤2 years of age.
Karine Aouchiche, Laure Van Wormhoudt, Kevin Perge, Joanne Dornberger, Cindy Colson, Marine Delagrange, Clara Leroy, Jennifer Ledmazel, Vanessa Menut, Jessica Benarrous Jaillet, Djamel Bendifallah, Mohamad Hage Chehade, Christelle Dib, Anne Barlier, Thierry Brue, Rachel Reynaud, Alexandru Saveanu   +16 more
wiley   +1 more source

Management of infertility in women with hypothalamic hypogonadotropic hypogonadism: an expert opinion

Reproductive Biology and Endocrinology
Background Hypothalamic gonadotropin-releasing hormone (GnRH) plays a central role in regulating the pituitary-gonadal axis. The pulsatility of GnRH release is critical for maintaining the function of GnRH receptors and the secretion pattern of ...
Geoffroy Robin, Lorraine Maitrot-Mantelet, Sophie Dubourdieu, Bérengère Kiehl-Bigot, Maria Katsogiannou, Michel De Vos, Sophie Christin-Maitre   +6 more
doaj   +1 more source

Kallmann syndrome revealed by primary amenorrhea: Phenotypic variability and diagnostic challenges—A report of three cases

Radiology Case Reports
Kallmann syndrome is a rare form of congenital hypogonadotropic hypogonadism associated with anosmia or hyposmia. We describe 3 female patients aged 17, 17, and 22 years who were evaluated for primary amenorrhea and reported lifelong anosmia.
Fatima Toulali, MD, Rim Laaboudi, MD, Hounaida Mahfoud, MD, Amal Lahfidi, MD, Kaoutar Rifai, MD, Fatima Elhassouni, MD, Hinde Iraqi, MD, Mohammed El hassan Gharbi, MD, Samir Bargach, MD   +8 more
doaj   +1 more source

Reproduction, Smell and Neurodevelopmental disorders: Genetic defects in different hypogonadotropic hypogonadal syndromes.

Frontiers in Endocrinology, 2014
The neuroendocrine control of reproduction in mammals is governed by a neural hypothalamic network of nearly 1500 gonadotropin-releasing hormone (GnRH) secreting neurons that modulate the activity of the reproductive axis across life.
Hernan G VALDES-SOCIN, Matilde eRUBIO ALMANZA, Mariana eTOME FERNANDEZ-LADREDA, François Guillaume DEBRAY, Vincent eBOURS, Albert eBeckers   +5 more
doaj   +1 more source