Works matching DE "KALLMANN syndrome"

Results: 301

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

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2025, v. 100, n. 1, p. 105, doi. 10.5114/polp.2025.148232

By:

Matusiak, Karina;
Walewska-Wolf, Małgorzata

Publication type:

Article

Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5207, doi. 10.3390/ijms26115207

By:

Chiarello, Paola;
Gualtieri, Gianmarco;
Bossio, Sabrina;
Seminara, Giuseppe;
Molinaro, Marianna;
Antonucci, Gemma;
Perri, Anna;
Rocca, Valentina;
Cannarella, Rossella;
La Vignera, Sandro;
Calogero, Aldo E.;
Greco, Emanuela A.;
Iuliano, Rodolfo;
Alcaro, Stefano;
Aversa, Antonio

Publication type:

Article

Response to "Gonadotropin Treatment of Cryptorchidism in Congenital Hypogonadotropic Hypogonadism—Age Is No Limit?".

Published in:

Clinical Endocrinology, 2025, v. 102, n. 6, p. 706, doi. 10.1111/cen.15222

By:

Cho, Yoon Hi;
Deshpande, Aniruddh;
Langusch, Catherine;
Ambler, Geoffrey

Publication type:

Article

PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance.

Published in:

Global Medical Genetics, 2025, v. 12, n. 2, p. 1, doi. 10.1016/j.gmg.2025.100037

By:

Yuanfan Yuan;
Qianqian Huang;
Jiehan Zhang;
Zehua Zhou;
Qing Wan;
Lulu Chen;
Tianshu Zeng;
Huiqing Li;
Qiao Zhang;
Xiang Hu

Publication type:

Article

Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study Open Access.

Published in:

Human Reproduction Open, 2025, v. 2025, n. 2, p. 1, doi. 10.1093/hropen/hoaf026

By:

Castro, Sebastian;
Yin, Kyla Ng;
d'Aniello, Francesco;
Alexander, Emma C;
Connolly, Emily;
Hughes, Claire;
Martin, Lee;
Prasad, Rathi;
Storr, Helen L;
Willemsen, Ruben H;
Dunkel, Leo;
Butler, Gary;
Howard, Sasha R

Publication type:

Article

Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

Published in:

Genes, 2025, v. 16, n. 5, p. 495, doi. 10.3390/genes16050495

By:

Szoszkiewicz, Anna;
Sowińska-Seidler, Anna;
Gruca-Stryjak, Karolina;
Jamsheer, Aleksander

Publication type:

Article

Live birth in male de novo Kallmann syndrome after cross-generational genetic sequencing.

Published in:

Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 12, p. 2481, doi. 10.1007/s10815-019-01604-9

By:

Chan, Cindy;
Wang, Cheng-Wei;
Chen, Ching-Hui;
Chen, Chi-Huang

Publication type:

Article

An Uncommon Association of Kallmann Syndrome and Arachnoid Cysts: A Case Report.

Published in:

Central European Journal of Paediatrics, 2021, v. 17, n. 2, p. 114, doi. 10.5457/p2005-114.298

By:

Hairlahović, Arnela;
Kovačević, Mirzet;
Kogoj, Tina Krokter;
Avsenik, Jernej

Publication type:

Article

SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome.

Published in:

Journal of the Endocrine Society, 2021, v. 5, n. 7, p. 1, doi. 10.1210/jendso/bvab056

By:

Shima, Hirohito;
Tokuhiro, Etsuro;
Okamoto, Shingo;
Nagamori, Mariko;
Ogata, Tsutomu;
Narumi, Satoshi;
Nakamura, Akie;
Izumi, Yoko;
Jinno, Tomoko;
Suzuki, Erina;
Fukami, Maki

Publication type:

Article

Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.

Published in:

Human Reproduction Open, 2024, v. 2024, n. 3, p. 1, doi. 10.1093/hropen/hoae053

By:

Carriço, Josianne Nunes;
Gonçalves, Catarina Inês;
Al-Naama, Asma;
Syed, Najeeb;
Aragüés, José Maria;
Bastos, Margarida;
Fonseca, Fernando;
Borges, Teresa;
Pereira, Bernardo Dias;
Pignatelli, Duarte;
Carvalho, Davide;
Cunha, Filipe;
Saavedra, Ana;
Rodrigues, Elisabete;
Saraiva, Joana;
Ruas, Luisa;
Vicente, Nuno;
Martins, João Martin;
Lages, Adriana De Sousa;
Oliveira, Maria João

Publication type:

Article

Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review.

Published in:

2016

By:

Salama, Nader

Publication type:

Case Study

Microdissection testicular sperm extraction outcomes in azoospermic patients with bilateral orchidopexy.

Published in:

Andrology, 2024, v. 12, n. 1, p. 157, doi. 10.1111/andr.13463

By:

Arasteh, Hamid;
Gilani, Mohammad Ali Sadighi;
Ramezani‐binabaj, Mahdi;
Babaei, Mehdi

Publication type:

Article

Clomiphene citrate for men with hypogonadism: a systematic review and meta‐analysis.

Published in:

Andrology, 2022, v. 10, n. 3, p. 451, doi. 10.1111/andr.13146

By:

Huijben, Manou;
Lock, M. Tycho W.T.;
de Kemp, Vincent F.;
de Kort, Laetitia M.O.;
van Breda, H.M.K

Publication type:

Article

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.

Published in:

Andrology, 2018, v. 6, n. 1, p. 53, doi. 10.1111/andr.12432

By:

Lopategui, D. M.;
Griswold, A. J.;
Arora, H.;
Clavijo, R. I.;
Tekin, M.;
Ramasamy, R.

Publication type:

Article

Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease.

Published in:

Life (2075-1729), 2024, v. 14, n. 10, p. 1254, doi. 10.3390/life14101254

By:

Lattanzi, Roberta;
Miele, Rossella

Publication type:

Article

Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism.

Published in:

Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/6945124

By:

Salameh, Rami;
Miah, Mumtaheena;
Anastasopoulou, Catherine

Publication type:

Article

Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism.

Published in:

Case Reports in Endocrinology, 2020, p. 1, doi. 10.1155/2020/6945124

By:

Salameh, Rami;
Miah, Mumtaheena;
Anastasopoulou, Catherine

Publication type:

Article

Seminal Plasma Lipidomics Profiling to Identify Signatures of Kallmann Syndrome.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.692690

By:

Li, Xiaogang;
Wang, Xi;
Li, Haolong;
Li, Yongzhe;
Guo, Ye

Publication type:

Article

Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2020.592831

By:

Chen, Kan;
Wang, Haoyu;
Lai, Yaxin

Publication type:

Article

Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants.

Published in:

Genes, 2023, v. 14, n. 6, p. 1204, doi. 10.3390/genes14061204

By:

Stuckey, Bronwyn G. A.;
Jones, Timothy W.;
Ward, Bryan K.;
Wilson, Scott G.

Publication type:

Article

Novel FGFR1 Variants Are Associated with Congenital Scoliosis.

Published in:

Genes, 2021, v. 12, n. 8, p. 1126, doi. 10.3390/genes12081126

By:

Wang, Shengru;
Chai, Xiran;
Yan, Zihui;
Zhao, Sen;
Yang, Yang;
Li, Xiaoxin;
Niu, Yuchen;
Lin, Guanfeng;
Su, Zhe;
Wu, Zhihong;
Zhang, Terry Jianguo;
Wu, Nan

Publication type:

Article

Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome.

Published in:

Genes, 2021, v. 13, n. 6, p. 868, doi. 10.3390/genes12060868

By:

Kałużna, Małgorzata;
Budny, Bartłomiej;
Rabijewski, Michał;
Kałużny, Jarosław;
Dubiel, Agnieszka;
Trofimiuk-Müldner, Małgorzata;
Wrotkowska, Elżbieta;
Hubalewska-Dydejczyk, Alicja;
Ruchała, Marek;
Ziemnicka, Katarzyna

Publication type:

Article

The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics.

Published in:

Genes, 2019, v. 10, n. 9, p. 713, doi. 10.3390/genes10090713

By:

Bohonowych, Jessica;
Miller, Jennifer;
McCandless, Shawn E.;
Strong, Theresa V.

Publication type:

Article

Identification of a novel mutation in FGFR1 gene in patients with Kallmann syndrome by high throughput sequencing.

Published in:

Systems Biology in Reproductive Medicine, 2018, v. 64, n. 3, p. 202, doi. 10.1080/19396368.2018.1458919

By:

Jin, Bao-Fang;
Ji, Zhi-Yong;
Su, Zhi-Ying;
Mei, Li-Bin;
Huang, Xian-Jing;
Lin, Shao-Bin;
Li, Ping;
Sha, Yan-Wei

Publication type:

Article

Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age.

Published in:

Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 2, p. 51, doi. 10.5114/pedm.2024.140998

By:

Roztoczyńska, Dorota;
Kot-Marchewczyk, Adrianna;
Wędrychowicz, Anna;
Dobosz, Artur;
Starzyk, Jerzy

Publication type:

Article

Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

Published in:

2005

By:

Pitteloud, Nelly;
Acierno Jr., James S.;
Meysing, Astrid U.;
Dwyer, Andrew A.;
Hayes, Frances J.;
Crowley Jr., William F.

Publication type:

journal article

Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

Published in:

1997

By:

GEORGOPOULOS, NEOKLIS A.;
PRALONG, FRANÇOIS P.;
SEIDMAN, CHRISTINE E.;
SEIDMAN, J. G.;
CROWLEY JR., WILLIAM F.;
VALLEJO, MARIO

Publication type:

journal article

The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

Published in:

1996

By:

Waldstreicher, J;
Seminara, S B;
Jameson, J L;
Geyer, A;
Nachtigall, L B;
Boepple, P A;
Holmes, L B;
Crowley, W F Jr

Publication type:

journal article

Involvement of a Novel Variant of FGFR1 Detected in an Adult Patient with Kallmann Syndrome in Regulation of Gonadal Steroidogenesis.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 6, p. 2713, doi. 10.3390/ijms26062713

By:

Soejima, Yoshiaki;
Otsuka, Yuki;
Kawaguchi, Marina;
Oguni, Kohei;
Yamamoto, Koichiro;
Nakano, Yasuhiro;
Yasuda, Miho;
Tokumasu, Kazuki;
Ueda, Keigo;
Hasegawa, Kosei;
Iwata, Nahoko;
Otsuka, Fumio

Publication type:

Article

Occurrence, patterns & predictors of hypogonadism in patients with HIV infection in India.

Published in:

Indian Journal of Medical Research, 2017, v. 145, n. 6, p. 804, doi. 10.4103/ijmr.IJMR_1926_15

By:

Dutta, Deep;
Sharma, Lokesh Kumar;
Sharma, Neera;
Gadpayle, Adesh K.;
Anand, Atul;
Gaurav, Kumar;
Gupta, Ankit;
Poondla, Yashwanth;
Kulshreshtha, Bindu

Publication type:

Article

Endocrine Society of Australia position statement on male hypogonadism (part 2): treatment and therapeutic considerations.

Published in:

2016

By:

Yeap, Bu B;
Grossmann, Mathis;
McLachlan, Robert I;
Handelsman, David J;
Wittert, Gary A;
Conway, Ann J;
Stuckey, Bronwyn Ga;
Lording, Douglas W;
Allan, Carolyn A;
Zajac, Jeffrey D;
Burger, Henry G

Publication type:

journal article

Early correction of synaptic long-term depression improves abnormal anxiety-like behavior in adult GluN2B-C456Y-mutant mice.

Published in:

PLoS Biology, 2020, v. 18, n. 4, p. 1, doi. 10.1371/journal.pbio.3000717

By:

Shin, Wangyong;
Kim, Kyungdeok;
Serraz, Benjamin;
Cho, Yi Sul;
Kim, Doyoun;
Kang, Muwon;
Lee, Eun-Jae;
Lee, Hyejin;
Bae, Yong Chul;
Paoletti, Pierre;
Kim, Eunjoon

Publication type:

Article

Does hormonal therapy improve sperm retrieval rates in men with non-obstructive azoospermia: a systematic review and meta-analysis.

Published in:

2022

By:

Tharakan, Tharu;
Corona, Giovanni;
Foran, Daniel;
Salonia, Andrea;
Sofikitis, Nikolaos;
Giwercman, Aleksander;
Krausz, Csilla;
Yap, Tet;
Jayasena, Channa N;
Minhas, Suks

Publication type:

journal article

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

Published in:

Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2024, v. 11, n. 3, p. 106, doi. 10.24875/RME.23000045

By:

Calvillo-Romero, Yeni;
Galicia-Juárez, Eunice;
Acosta-Altamirano, Gustavo;
Valencia-Ledezma, Omar E.;
Castro-Fuentes, Carlos A.

Publication type:

Article

Síndrome de Kallmann de diagnóstico tardío. Presentación de un caso.

Published in:

Revista Mexicana de Endocrinología, Metabolismo y Nutrición, 2019, v. 6, n. 4, p. 199, doi. 10.24875/RME.19001936

By:

MARTÍNEZ-MONTENEGRO, IRASEL;
BORGES-ALONSO, CLAUDIA

Publication type:

Article

A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.

Published in:

2020

By:

Hamada, Junpei;
Ochi, Fumihiro;
Sei, Yuka;
Takemoto, Koji;
Hirai, Hiroki;
Honda, Misa;
Shibata, Hironori;
Hasegawa, Tomonobu;
Eguchi, Mariko

Publication type:

Case Study

A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report.

Published in:

2024

By:

Jiang, Rong;
Qiu, Xueting;
Han, Xingfa;
Ma, Zhimin

Publication type:

Case Study

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant.

Published in:

2023

By:

Petrov, Sava;
Babadzhanova, Ekaterina;
Orbetzova, Maria;
Ivanov, Hristo

Publication type:

Case Study

Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings.

Published in:

Clinical Case Reports, 2020, v. 8, n. 12, p. 3126, doi. 10.1002/ccr3.3370

By:

Valsassina, Rita;
Briosa, Filipa;
Soares, Joana;
Amorim, Marta;
Limbert, Catarina

Publication type:

Article

Narcolepsy, depression, and severe flushing in an obese man.

Published in:

Clinical Case Reports, 2020, v. 8, n. 9, p. 1824, doi. 10.1002/ccr3.2873

By:

Biobaku, Fatimo;
Hanna, Adel;
Matthews, George;
Dhindsa, Sandeep;
Dandona, Paresh

Publication type:

Article

Testicular failure following severe diabetic ketoacidosis complicated by hypotensive shock.

Published in:

Clinical Case Reports, 2016, v. 4, n. 4, p. 396, doi. 10.1002/ccr3.527

By:

Janem, Waleed;
Mastrandrea, Lucy D.

Publication type:

Article

Ataxia and focal dystonia in Kallmann syndrome.

Published in:

Clinical Case Reports, 2016, v. 4, n. 2, p. 182, doi. 10.1002/ccr3.420

By:

Hernando‐Quintana, Natalia;
Playán‐Usón, Jesús;
Crespo‐Burillo, José Antonio;
Marín‐Cárdenas, Miguel Ángel;
Gazulla, José

Publication type:

Article

The evaluation of ovarian function in normosmic idiopathic hypogonadotropic hypogonadism with a fibroblast growth factor receptor 1 mutation: a case report.

Published in:

Gynecological Endocrinology, 2022, v. 38, n. 4, p. 350, doi. 10.1080/09513590.2022.2045580

By:

Wang, Lulu;
Lai, Dongmei

Publication type:

Article

A novel heterozygous intron mutation in SEMA7A causing kallmann syndrome in a female.

Published in:

Gynecological Endocrinology, 2020, v. 36, n. 3, p. 218, doi. 10.1080/09513590.2019.1680624

By:

Zhao, Yongting;
Yang, Fan;
Qiu, Lili;
Wang, Lihong;
Che, Hui

Publication type:

Article

The induction of ovulation by pulsatile administration of GnRH: an appropriate method in hypothalamic amenorrhea.

Published in:

Gynecological Endocrinology, 2017, v. 33, n. 8, p. 598, doi. 10.1080/09513590.2017.1296948

By:

Christou, Fotini;
Pitteloud, Nelly;
Gomez, Fulgencio

Publication type:

Article

Sexuality and quality of life in congenital hypogonadisms.

Published in:

Gynecological Endocrinology, 2016, v. 32, n. 12, p. 947, doi. 10.1080/09513590.2016.1241229

By:

Garrido Oyarzún, María Fernanda;
Castelo-Branco, Camil

Publication type:

Article

Kallmann syndrome in women: from genes to diagnosis and treatment†.

Published in:

Gynecological Endocrinology, 2013, v. 29, n. 4, p. 296, doi. 10.3109/09513590.2012.752459

By:

Meczekalski, Blazej;
Podfigurna-Stopa, Agnieszka;
Smolarczyk, Roman;
Katulski, Krzysztof;
Genazzani, Andrea R.

Publication type:

Article

Mosaic trisomy 13 and constitutional delay in puberty.

Published in:

Oxford Medical Case Reports, 2022, v. 2022, n. 5, p. 1, doi. 10.1093/omcr/omac046

By:

Eltayeb, Sara Yousif Hussein;
Bashier, Alaaeldin;
Hussain, Azza Abdulaziz Khalifa Bin

Publication type:

Article

Twin pregnancy in a woman with hypogonadotropic hypogonadism and uterus didelphys: A case report and literature review.

Published in:

Journal of Experimental & Clinical Medicine / Deneysel ve Klinik Tip Dergisi, 2018, v. 35, n. 2, p. 53, doi. 10.5835/jecm.omu.35.02.006

By:

Ulubaşoğlu, Hasan;
Batıoğlu, Sertaç;
Güven, Davut

Publication type:

Article

Changes in antral follicle count and ovarian volume with age.

Published in:

Journal of Experimental & Clinical Medicine / Deneysel ve Klinik Tip Dergisi, 2018, v. 35, n. 3, p. 57, doi. 10.5835/jecm.omu.35.03.001

By:

Kaya, Aysegul;
Kokcu, Arif;
Ozdes, Emel Kurtoglu;
Alper, Tayfun;
Cetinkaya, Mehmet Bilge

Publication type:

Article