Results 31 to 40 of about 3,243 (180)

Reversible kallmann syndrome: Rare yet real

Indian Journal of Endocrinology and Metabolism, 2019
Sudarsanababu Lalitha Soumya, Kripa Elizabeth Cherian, Nitin Kapoor, Thomas V Paul   +3 more
doaj   +2 more sources

Kallmann syndrome [PDF]

European Journal of Human Genetics, 2008
The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease.
Catherine, Dodé, Jean-Pierre, Hardelin
openaire   +3 more sources

Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation. [PDF]

BMJ Case Rep
Ichioka K, Yoshikawa T, Kimura H, Saito R.   +3 more
europepmc   +3 more sources

Kallmann syndrome

The Meducator, 2022
Kallmann syndrome (KS) is a form of hypogonadotropic hypogonadism characterized by a combination of both an inability to smell and properly regulate hypothalamic gonadotropin-releasing hormone (GnRH) pulses. This, as a result, affects the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) from the pituitary gland, which in turn ...
Alexander Xiang, Shanzey Ali
openalex   +3 more sources

Kallmann's Syndrome and Schizophrenia

The International Journal of Psychiatry in Medicine, 2004
Objective: Kallmann's Syndrome is a heritable disorder characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. A common pathogenesis for KS and schizophrenia had been proposed based on shared pathologies of these two disorders, although no such clinical associations have ever been reported. Method: We report a 35 year
Vagenakis, G. A., Hyphantis, T. N., Papageorgiou, C., Protonatariou, A., Sgourou, A., Dimopoulos, P. A., Mavreas, V., Vagenakis, A. G., Georgopoulos, N. A.   +8 more
openaire   +3 more sources

Síndrome de Kallmann

Brazilian Journal of Health Review, 2022
INTRODUÇÃO: A síndrome de Kalmann(SK) é definida pela associação de hipogonadismo hipogonadotrófico e anosmia ou hiposmia. E pode apresentar anomalias associadas, como perda auditiva, agenesia renal, sincinesia, fissura labiopalatina e agenesia dentária. APRESENTAÇÃO DO CASO: Paciente do sexo masculino, 12 anos de idade, admitido no Hospital Regional
Prado, Alana Layla Bueno, Sousa, Leonardo Rodrigues, Júnior, Liélio Vieira Lessa, Lima, Lucas Costa de Aranda, Rodrigues, Lucas Manrique, Citadin, Marielle Soratto, Oliveira, Gabriella Mendonça Leão de, Nascimento, Geovanna Borges do, Vaz, Gleiciane Ramos, Lourenço, Hellen Larissa de Oliveira, Assis, Marina Rocha, Matos, Rafael Carvalho Maganhoto de, Kuntz, Lorena de Oliveira, Nogueira, Lucas Francisco Soares, Oliveira, Maria Clara Gomes, Carneiro, Suzana Alves Mundim, Mendonça, Thaíne Inácio de, Guariente , Ana Carolina Vinhaes, Genaro, Sylvia de Sousa, Ruggio, Polyana Fernandes, Dourado, Thais Lima   +20 more
openaire   +2 more sources

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

Frontiers in Pediatrics, 2022
Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general illnesses and primary testicular failure are ruled out, the main differential diagnosis is central ...
Sebastián Castro, Franco G. Brunello, Franco G. Brunello, Gabriela Sansó, Gabriela Sansó, Paula Scaglia, Paula Scaglia, María Esnaola Azcoiti, María Esnaola Azcoiti, Agustín Izquierdo, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, María Gabriela Ropelato, Marcelo A. Martí, Rodolfo A. Rey, Rodolfo A. Rey, Rodolfo A. Rey, Romina P. Grinspon   +19 more
doaj   +1 more source

Case report: A case of Culler-Jones syndrome caused by a novel mutation of GLI2 gene and literature review

Frontiers in Endocrinology, 2023
Culler-Jones syndrome is a rare clinical phenomenon with diverse manifestations and is prone to misdiagnosis. We report one patient who presented with a 10-year history of anosmia and a 1-year history of epididymal pain.
Yiwen Zhang, Bingzi Dong, Yu Xue, Yunyang Wang, Jing Yan, Lili Xu   +5 more
doaj   +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 215-222, January 2026.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad, Claire Lawn, Honor Gartland, Louisa Steel, Caitlin Barns‐Jenkins, Greg James, Eleanor Hay, Andrew O. M. Wilkie, Louise C. Wilson   +8 more
wiley   +1 more source

Kallmann Syndrome and Depression: A Case Report

Kerala Journal of Psychiatry
Kallmann syndrome is a genetic condition that causes low testosterone levels and anosmia. It can also be linked to mood disorders such as depression. This case report describes an 18-year-old male with Kallmann syndrome who experienced low mood, fatigue,
Tanvi Mittal, Nishanth JH
doaj   +1 more source