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Kallmann syndrome

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https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#1
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28882981/characteristics-of-a-nationwide-cohort-of-patients-presenting-with-isolated-hypogonadotropic-hypogonadism-ihh
#2
Marco Bonomi, Valeria Vezzoli, Csilla Gabriella Krausz, Fabiana Guizzardi, Silvia Vezzani, Manuela Simoni, Ivan Bassi, Paolo Duminuco, Natascia Di Iorgi, Claudia Giavoli, Alessandro Pizzoccaro, Gianni Russo, Mirella Moro, Letizia Maria Fatti, Alberto Ferlin, Laura Mazzanti, Maria Chiara Zatelli, Salvatore Cannavò, Andrea M Isidori, Angela I Pincelli, Flavia Prodam, Antonio Mancini, Paolo Limone, Maria Laura Tanda, Rossella Gaudino, Mariacarolina Salerno, Francesca Pregnolato, Mohammad Maghnie, Mario Maggi, Luca Persani
OBJECTIVE: IHH is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell (Kallmann syndrome, KS). Other reproductive and non-reproductive anomalies might be present altough information on their frequency are scanty, particularly according to the age of presentation. DESIGN: Observational cohort study carried out between January 2008-June 2016 within a national network of academic or general hospitals Methods: We performed a detailed phenotyping of 503 IHH patients with: 1) manifestations of hypogonadism with low sex steroid hormone and low/normal gonadotropins; 2) absence of expansive hypothalamic/pituitary lesions or multiple pituitary hormone defects...
September 7, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28870428/retro-and-orthonasal-olfactory-function-in-relation-to-olfactory-bulb-volume-in-patients-with-hypogonadotrophic-hypogonadism
#3
Murat Salihoglu, Onuralp Kurt, Seyid Ahmet Ay, Kamil Baskoy, Aytug Altundag, Muzaffer Saglam, Ferhat Deniz, Hakan Tekeli, Arif Yonem, Thomas Hummel
INTRODUCTION: Idiopathic hypogonadotrophic hypogonadism (IHH) with an olfactory deficit is defined as Kallmann syndrome (KS) and is distinct from normosmic IHH. OBJECTIVE: Because olfactory perception not only consists of orthonasally gained impressions but also involves retronasal olfactory function, in this study we decided to comprehensively evaluate both retronasal and orthonasal olfaction in patients with IHH. METHODS: This case-control study included 31 controls and 45 IHH patients...
August 24, 2017: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28858133/kallmann-syndrome-with-a-tyr113his-prokr2-mutation
#4
Jeong-Ha Ha, Sara Lee, Youngmoon Kim, Ji In Moon, Jongkwon Seo, Ja-Hyun Jang, Eun-Hae Cho, Jung Min Kim, Byoung Doo Rhee, Kyung Soo Ko, Soo Jin Yoo, Jong Chul Won
RATIONAL: Kallmann syndrome (KS) is a genetic gonadotropin-releasing hormone deficiency associated with hyposmia or anosmia and characterized by various modes of inheritance. PATIENT CONCERNS: A 16-year-old male did not reach puberty and was associated with hypogonadotropic hypogonadism and anosmia. His magnetic resonance imaging of brain revealed the absence of the olfactory bulb. DIAGNOSIS: His karyotype was 46 XY. Sanger sequencing of the KAL1 gene revealed no mutations...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28833369/clinical-and-genetic-features-of-64-young-male-paediatric-patients-with-congenital-hypogonadotropic-hypogonadism-chh
#5
Yi Wang, Chunxiu Gong, Miao Qin, Ying Liu, Yuanyuan Tian
CONTEXT: The diagnosis of congenital hypogonadotropic hypogonadism (CHH) in prepuberty has always been challenging. Here, we aimed at studying the clinical and genetic features of paediatric CHH, especially the phenotype of hypospadias and dual defects (patients showing hypothalamic and/or pituitary defects and testicular hypoplasia), so as to have a better understanding of CHH. DESIGN: The clinical and genetic features of CHH patients were analysed and the relationships between hypospadias, dual defects and genetics investigated...
August 20, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28807454/reconsidering-olfactory-bulb-magnetic-resonance-patterns-in-kallmann-syndrome
#6
Thomas Hacquart, Aïcha Ltaief-Boudrigua, Cécile Jeannerod, Salem Hannoun, Gérald Raverot, Michel Pugeat, Aude Brac de la Perriere, Véronique Lapras, Frédérique Nugues, Catherine Dode, Francois Cotton
OBJECTIVE: The aim of this retrospective study was to perform magnetic resonance imaging assessment of olfactory pathway and skull base abnormalities in Kallmann syndrome (KS) patients with hypogonadotropic hypogonadism and olfaction disorder. METHODS: Magnetic resonance brain patterns were retrospectively studied in 19 patients clinically classified as KS. Qualitative assessment of olfactory bulb region comprised bulb atrophy and rectus and medial orbital gyrus ptosis; quantitative assessment measured olfactory fossa depth and width, sulcus depth and ethmoid angle...
August 11, 2017: Annales D'endocrinologie
https://www.readbyqxmd.com/read/28802362/kallmann-syndrome-in-pediatric-otorhinolaryngology-practice-case-report-and-literature-review
#7
Karolina Dżaman, Karolina Zborowska-Piskadło, Mirosława Pietniczka-Załęska, Ireneusz Kantor
BACKGROUND: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. CASE: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28791186/a-case-of-male-osteoporosis-a-37-year-old-man-with-multiple-vertebral-compression-fractures
#8
Suhaib Radi, Andrew C Karaplis
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. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28780519/analysis-of-genetic-and-clinical-characteristics-of-a-chinese-kallmann-syndrome-cohort-with-anos1-mutations
#9
Min Nie, Hongli Xu, Rongrong Chen, Jiangfeng Mao, Xi Wang, Shuyu Xiong, Junjie Zheng, Bingqing Yu, Mingxuan Cui, Wanlu Ma, Qibing Huang, Hongbing Zhang, Xueyan Wu
OBJECTIVE: To analyze ANOS1 gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with ANOS1 mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' ANOS1 gene sequences were analyzed by direct sequencing of PCR-amplified products. In silico analysis was used to assess functional relevance of newly identified missense mutations...
August 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28616754/sexually-dimorphic-distribution-of-prokr2-neurons-revealed-by-the-prokr2-cre-mouse-model
#10
Zaid Mohsen, Hosung Sim, David Garcia-Galiano, Xingfa Han, Nicole Bellefontaine, Thomas L Saunders, Carol F Elias
Prokineticin receptor 2 (PROKR2) is predominantly expressed in the mammalian central nervous system. Loss-of-function mutations of PROKR2 in humans are associated with Kallmann syndrome due to the disruption of gonadotropin releasing hormone neuronal migration and deficient olfactory bulb morphogenesis. PROKR2 has been also implicated in the neuroendocrine control of GnRH neurons post-migration and other physiological systems. However, the brain circuitry and mechanisms associated with these actions have been difficult to investigate mainly due to the widespread distribution of Prokr2-expressing cells, and the lack of animal models and molecular tools...
June 14, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28611058/gnrhr-biallelic-and-digenic-mutations-in-patients-with-normosmic-congenital-hypogonadotropic-hypogonadism
#11
Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho, Manuel C Lemos
OBJECTIVE: Normosmic congenital hypogonadotropic hypogonadism (nCHH) is a rare disorder characterised by lack of pubertal development and infertility, due to deficient production, secretion or action of gonadotropin-releasing hormone (GnRH) and, unlike Kallmann syndrome, is associated with a normal sense of smell. Mutations in the GNRHR gene cause autosomal recessive nCHH. The aim of this study was to determine the prevalence of GNRHR mutations in a group of 40 patients with nCHH. DESIGN: Cross-sectional study of 40 unrelated patients with nCHH...
August 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#12
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28601348/genetic-diagnostics-of-male-infertility-in-clinical-practice
#13
REVIEW
Ryan Flannigan, Peter N Schlegel
Approximately 15% of couples are infertile. Male factors contribute to infertility in over 50% of cases. Identifiable genetic abnormalities contribute to 15%-20% of the most severe forms of male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility such as Klinefelter syndrome, XYY men, Kallmann syndrome, y-microdeletions, Robertsonian translocations, autosomal inversions, mixed gonadal dysgenesis, x-linked and autosomal gene mutations, and cystic fibrosis transmembrane conductance regulator abnormalities...
May 10, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28576390/genetic-basis-of-eugonadal-and-hypogonadal-female-reproductive-disorders
#14
REVIEW
Tatiana Trofimova, Daria Lizneva, Larisa Suturina, Walidah Walker, Yen-Hao Chen, Ricardo Azziz, Lawrence C Layman
This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes...
May 9, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28416537/anosmia-with-hypogonadism-but-not-kallmann-syndrome
#15
Adlyne Reena Asirvatham, Shriraam Mahadevan, Satishkumar Balasubramanian
No abstract text is available yet for this article.
April 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28411082/a-dominant-negative-fgfr1-mutation-identified-in-a-kallmann-syndrome-patient
#16
Hunjin Luo, Ruizhi Zheng, Yaguang Zhao, Jiayu Wu, Jie Li, Fang Jiang, Dan-Na Chen, Xiao-Tao Zhou, Jia-Da Li
Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia. Fibroblast growth factor receptor 1 (FGFR1) is one of KS-associated genes, accounts for approximately 10% of total patients. FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect. In this study, we identified a novel FGFR1 mutation (c.867G>A; p.W289X) in a KS patient. The p.W289X mutation leads premature termination, producing a truncated FGFR1 without the transmembrane and intracellular domains...
July 20, 2017: Gene
https://www.readbyqxmd.com/read/28334861/defective-signaling-through-plexin-a1-compromises-the-development-of-the-peripheral-olfactory-system-and-neuroendocrine-reproductive-axis-in-mice
#17
Séverine Marcos, Carine Monnier, Xavier Rovira, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean-Pierre Hardelin
The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28324054/ccdc141-mutations-in-idiopathic-hypogonadotropic-hypogonadism
#18
Ihsan Turan, B Ian Hutchins, Bulent Hacihamdioglu, L Damla Kotan, Fatih Gurbuz, Ayca Ulubay, Eda Mengen, Bilgin Yuksel, Susan Wray, A Kemal Topaloglu
Context: Gonadotropin-releasing hormone neurons originate outside the central nervous system in the olfactory placode and migrate into the central nervous system, becoming integral components of the hypothalamic-pituitary-gonadal axis. Failure of this migration can lead to idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS). We have previously shown that CCDC141 knockdown leads to impaired migration of GnRH neurons but not of olfactory receptor neurons. Objective: The aim of this study was to further describe the phenotype and prevalence of CCDC141 mutations in IHH/KS...
June 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28324034/anti-m%C3%A3-llerian-hormone-and-ovarian-morphology-in-women-with-isolated-hypogonadotropic-hypogonadism-kallmann-syndrome-effects-of-recombinant-human-fsh
#19
Hélène Bry-Gauillard, Florence Larrat-Ledoux, Jean-Marc Levaillant, Nathalie Massin, Luigi Maione, Isabelle Beau, Nadine Binart, Philippe Chanson, Sylvie Brailly-Tabard, Janet E Hall, Jacques Young
Context: Isolated hypogonadotropic hypogonadism (IHH), characterized by gonadotropin deficiency and absent puberty, is very rare in women. IHH prevents pubertal ovarian stimulation, but anti-Müllerian hormone (AMH) and antral follicle count (AFC) have not been studied. Objectives: (1) To compare, in IHH vs controls, AMH, ovarian volume (OV), and AFC. (2) To compare, in IHH, ovarian responses to recombinant human follicle-stimulating hormone (rhFSH) and rhFSH plus recombinant human luteinizing hormone (rhLH)...
April 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28320840/k-channel-kv3-4-is-essential-for-axon-growth-by-limiting-the-influx-of-ca-2-into-growth-cones
#20
Chia-Yi Huang, Cheng-Chang Lien, Chau-Fu Cheng, Ting-Yun Yen, Chieh-Ju Chen, Meei-Ling Tsaur
Membrane excitability in the axonal growth cones of embryonic neurons influences axon growth. Voltage-gated K(+) (Kv) channels are key factors in controlling membrane excitability, but whether they regulate axon growth remains unclear. Here, we report that Kv3.4 is expressed in the axonal growth cones of embryonic spinal commissural neurons, motoneurons, dorsal root ganglion neurons, retinal ganglion cells, and callosal projection neurons during axon growth. Our in vitro (cultured dorsal spinal neurons of chick embryos) and in vivo (developing chick spinal commissural axons and rat callosal axons) findings demonstrate that knockdown of Kv3...
April 26, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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