Results 51 to 60 of about 3,243 (180)

Prevalence of olfactory and other developmental anomalies in patients with central hypogonadotropic hypogonadism

Frontiers in Endocrinology, 2013
Introduction: Hypogonadotropic hypogonadism (HH) is a heterogenous disease caused by mutations in several genes. Based on the presence of hyposmia/anosmia it is distinguished into Kallmann syndrome and isolated HH.
Elisa eDella Valle, Silvia eVezzani, Vincenzo eRochira, Vincenzo eRochira, Antonio Raffaele Michele Granata, Antonio Raffaele Michele Granata, Bruno eMadeo, Bruno eMadeo, Elisabetta eGenovese, Elisa ePignatti, Marco eMarino, Cesare eCarani, Cesare eCarani, Manuela eSimoni, Manuela eSimoni   +14 more
doaj   +1 more source

Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer–Vinson Syndrome

Clinical Case Reports, Volume 13, Issue 10, October 2025.
ABSTRACT Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder that results in delayed puberty and infertility due to impaired secretion of gonadotropin‐releasing hormone (GnRH). Here, we present a case of a 25‐year‐old male with a known history of Plummer–Vinson syndrome and celiac disease, who presented with the chief complaints of easy ...
Osama Ahmad, Uzma Akbar, Fatima Sajjad, Muhammad Abdullah Ali, Umama Alam, Zaryab Bacha, Jibran Ikram, Malik W. Z. Khan   +7 more
wiley   +1 more source

Kallmann Syndrome in a pediatric patient with delayed puberty in Mexico: case report

Revista Mexicana de Endocrinología, Metabolismo y Nutrición
Kallmann syndrome is a low-frequency pathology that mainly affects men. This case report aims to present the management of a pediatric patient diagnosed with Kallmann syndrome in Mexico.
Yeni Calvillo-Romero, Eunice Galicia-Juárez, Gustavo Acosta-Altamirano, Omar E. Valencia-Ledezma, Carlos A. Castro-Fuentes   +4 more
doaj   +1 more source

Shared Lineage, Distinct Outcomes: Yap and Taz Loss Differentially Impact Schwann and Olfactory Ensheathing Cell Development Without Disrupting GnRH‐1 Migration

Glia, Volume 73, Issue 10, Page 2077-2097, October 2025.
Main Points OECs, SCs, and Mel derive from SCPs. Sox10Cre;YapHet;TazKO mice show impaired SC maturation, reduced Mel formation, fewer SCPs, OECs, and olfactory neurons, but normal GnRH‐1 neuron migration. ABSTRACT Olfactory Ensheathing Cells (OECs) are glial cells originating from the neural crest and are critical for bundling olfactory axons to the ...
Ed Zandro M. Taroc, Enrico Amato Jr., Alexis M. Semon, Nikki Dolphin, Briane Beck, Sophie Belin, Yannick Poitelon, Paolo E. Forni   +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

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

PROK2 / PROKR2 signaling and Kallmann syndrome

Frontiers in Endocrinology, 2013
Kallmann syndrome (KS) is a developmental disease that associates hypogonadism and a deficiency of the sense of smell. The reproductive phenotype of KS results from the primary interruption of the olfactory, vomeronasal and terminal nerve fibers in the ...
Catherine eDodé, Philippe eRondard
doaj   +1 more source

EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder

Movement Disorders, Volume 40, Issue 9, Page 1883-1891, September 2025.
ABSTRACT Background Congenital mirror movement disorders (CMMs) are clinically and genetically heterogeneous in human patients. CMMs have not been documented to occur spontaneously in animals. Objective The objective of this work was to document the first case of CMMs spontaneously occurring in Weimaraner dogs and to identify the underlying genetic ...
Cleo Schwarz, Florian Bartenschlager, Olivia Kershaw, Judith Braun, Julien Guevar, Vidhya Jagannathan, Jörg T. Epplen, Wencke Reineking, Wolfgang Baumgärtner, Kailash P. Bhatia, Achim D. Gruber, Tosso Leeb   +11 more
wiley   +1 more source

Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
We reported a 5‐generation family with autosomal dominant Waardenburg syndrome and identified a heterozygous variant of the SOX10 gene by exome sequencing and Sanger sequencing. In addition, we performed prenatal diagnosis for family related individual.
Fei Hou, Yan Li, Luquan Cao, Yan Zhao, Shan Shan, Hua Jin   +5 more
wiley   +1 more source

Corticospinal Tract Development, Evolution, and Skilled Movements

Movement Disorders, Volume 40, Issue 7, Page 1221-1232, July 2025.
Abstract The evolution of the corticospinal tract (CST) is closely linked to the development of skilled voluntary movements in mammals. The main evolutionary divergence concerns the position of the CST within the spinal cord white matter and its postsynaptic targets in the grey matter.
Emmanuel Roze, Caroline Dubacq, Quentin Welniarz   +2 more
wiley   +1 more source