Results 21 to 30 of about 3,243 (180)

Co-occurrence of a Mullerian anomaly and Kallmann syndrome: A case report [PDF]

Case Reports in Women's Health
The evaluation of primary amenorrhea requires a thoughtful assessment for hormonal, structural and/or genetic causes. Although most cases of primary amenorrhea are caused by a single pathology, rarely multiple pathologies may be uncovered. We present the
Lea C. George, Rebecca Gendelman, Anat Chemerinski, Pierre Lespinasse, Inessa A. Goldman, Sara Morelli   +5 more
doaj   +2 more sources

Clinical, diagnostic, and therapeutic aspects of Kallmann syndrome with an FGFR1 gene variant in a female adolescent [PDF]

Pediatria Polska
This report details a case of a female patient with genetically confirmed Kallmann syndrome, which was found to be related to a novel molecular variant of the FGFR1 gene. We present a case of a 12-year-old girl, referred to the Pediatric and Adolescent
Karina Matusiak, Małgorzata Walewska-Wolf   +1 more
doaj   +2 more sources

Kallmann syndrome: MRI findings

Indian Journal of Endocrinology and Metabolism, 2013
Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia or hyposmia. It is a neuronal migration disorder.
Houneida Zaghouani, Ines Slim, Neila Ben Zina, Najoua Mallat, Houda Tajouri, Chakib Kraiem   +5 more
doaj   +3 more sources

Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome [PDF]

Cell Death Discovery
Rhabdomyosarcoma 2-associated transcript (RMST) long non-coding RNA has previously been shown to cause Kallmann syndrome (KS), a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism (CHH) and olfactory dysfunction.
Gowher Ali, Kyung Chul Shin, Nisar Ahmed, Wesal Habbab, Ghaneya Alkhadairi, Aleem Razzaq, Yosra Bejaoui, Nady El Hajj, Borbala Mifsud, Yongsoo Park, Lawrence W. Stanton   +10 more
doaj   +2 more sources

[Olfactory function and olfactory bulbs in patients with Kallmann syndrome]. [PDF]

Probl Endokrinol (Mosk), 2023
Kokoreva KD, Chugunov IS, Vladimirova VP, Ivannikova TE, Bogdanov VP, Bezlepkina OB.   +5 more
europepmc   +3 more sources

Sperm DNA methylation profiling in patients with Kallmann syndrome. [PDF]

Endocr Connect
Wang R, Li X, Zhang J, Wang X, Mao J, Feng X, Wang S, Li Y, Wu X, Guo Y.   +9 more
europepmc   +2 more sources

A rare case of congenital fibrosis of extra ocular muscles with Kallmann syndrome. [PDF]

Indian J Ophthalmol, 2022
Yenugandula R, Ramavath SK, Kishore K, Qureishi D.   +3 more
europepmc   +2 more sources

Clinico-hormonal Parameters as a Primary Step to Differentiate Normosmic Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome in a Tertiary Care Hospital in Eastern India [PDF]

Journal of Clinical and Diagnostic Research, 2021
Introduction: Idiopathic hypogonadotropic hypogonadism is a rare gonadal dysgenesis in which puberty does not take place naturally. It occurs due to insufficient pulsatile secretion of Gonadotrophin-Releasing Hormone (GnRH) and the resulting Follicle-
Ram Chandra Bhadra, Dona Saha, Arjun Baidya   +2 more
doaj   +1 more source

Dynamic spectral signatures of mirror movements in the sensorimotor functional connectivity network of patients with Kallmann syndrome. [PDF]

Front Neurosci, 2022
Di Nardo F, Manara R, Canna A, Trojsi F, Velletrani G, Sinisi AA, Cirillo M, Tedeschi G, Esposito F.   +8 more
europepmc   +3 more sources

Brain Changes in Kallmann Syndrome [PDF]

American Journal of Neuroradiology, 2014
Kallmann syndrome is a rare inherited disorder due to defective intrauterine migration of olfactory axons and gonadotropin-releasing hormone neurons, leading to rhinencephalon hypoplasia and hypogonadotropic hypogonadism. Concomitant brain developmental abnormalities have been described.
Renzo Manara, Alessandro Salvalaggio, Angela Favaro, Vincenzo Davide Palumbo, Valentina Citton, Andrea Elefante, Arturo Brunetti, Francesco Di Salle, G. Bonanni, Antonio Agostino Sinisi, for the Kallmann Syndrome Neuroradiological Study Group   +10 more
openalex   +6 more sources