PMC Articles for MedGen (Select 82883) - PMC

Links from MedGen

Items: 1 to 20 of 623

<< First< Prev

Page of 32

Next >Last >>

Select item 116807561.

Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome

Bright Nwatamole, Sumana Kundu, God-dowell O. Odukudu, Prava Basnet, Lubna Mirza

AACE Clin Case Rep. 2024 Nov-Dec; 10(6): 229–231. Published online 2024 Aug 10. doi: 10.1016/j.aace.2024.08.001

PMCID:: PMC11680756

Article PDF–240K

Select item 116297272.

Long-term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism

Nur Berna Çelik, Monique Losekoot, Emregül Işık, E. Nazlı Gönç, Ayfer Alikaşifoğlu, Nurgün Kandemir, Z. Alev Özön

J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 481–488. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2022.2022-8-1

PMCID:: PMC11629727

Article PDF–607K

Select item 115950843.

A Therapeutic Proposal for Mini-Puberty in Male Infants with Hypogonadotropic Hypogonadism: A Retrospective Case Series

María Aurora Mesas-Aróstegui, Fidel Hita-Contreras, Juan Pedro López-Siguero

J Clin Med. 2024 Nov; 13(22): 6983. Published online 2024 Nov 20. doi: 10.3390/jcm13226983

PMCID:: PMC11595084

Article PDF–252K

Select item 115941804.

Kallmann Syndrome: Functional Analysis of a CHD7 Missense Variant Shows Aberrant RNA Splicing

Josianne Nunes Carriço, Catarina Inês Gonçalves, José Maria Aragüés, Manuel Carlos Lemos

Int J Mol Sci. 2024 Nov; 25(22): 12061. Published online 2024 Nov 10. doi: 10.3390/ijms252212061

PMCID:: PMC11594180

Article PDF–1.2M

Select item 115903885.

Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study

Laura Lentini, Helia Toutounchi, Alexandra Chapleau, Adam Le, Simon Fournier, Fatemeh Emari, Robert Flamini, Andrea Rossi, Angela Gentile, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Elsa Rossignol, Deborah Renaud, Danilo De Assis Pereira, Xiaoru Chen, Adeline Vanderver, Geneviève Bernard

J Child Neurol. 2025 Jan; 40(1): 26–38. Published online 2024 Oct 21. doi: 10.1177/08830738241283171

PMCID:: PMC11590388

Article PDF–664K

Select item 115007116.

Juvenile Hemochromatosis Connecting Cardiac Arrest and Hypogonadotropic Hypogonadism in a Young Woman

Kevin Alexander Zinecker, Aleksandra Sliwinska, Leah M Wilson, Roula Zahr

JCEM Case Rep. 2024 Nov; 2(11): luae196. Published online 2024 Oct 24. doi: 10.1210/jcemcr/luae196

PMCID:: PMC11500711

Article PDF–306K

Select item 114976097.

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216

Anne Rochtus, Willeke Asscherickx, Marijke Timmers, Sascha Vermeer, Leen Antonio

JCEM Case Rep. 2024 Nov; 2(11): luae195. Published online 2024 Oct 23. doi: 10.1210/jcemcr/luae195

PMCID:: PMC11497609

Article PDF–306K

Select item 114165098.

DNA methylation changes in the genome of patients with hypogonadotropic hypogonadism

Erina Suzuki, Kazuhiko Nakabayashi, Saki Aoto, Tsutomu Ogata, Yoko Kuroki, Mami Miyado, Maki Fukami, Keiko Matsubara

Heliyon. 2024 Sep 30; 10(18): e37648. Published online 2024 Sep 7. doi: 10.1016/j.heliyon.2024.e37648

PMCID:: PMC11416509

Article PDF–1.2M

Select item 114158279.

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

Josianne Nunes Carriço, Catarina Inês Gonçalves, Asma Al-Naama, Najeeb Syed, José Maria Aragüés, Margarida Bastos, Fernando Fonseca, Teresa Borges, Bernardo Dias Pereira, Duarte Pignatelli, Davide Carvalho, Filipe Cunha, Ana Saavedra, Elisabete Rodrigues, Joana Saraiva, Luisa Ruas, Nuno Vicente, João Martin Martins, Adriana De Sousa Lages, Maria João Oliveira, Cíntia Castro-Correia, Miguel Melo, Raquel Gomes Martins, Joana Couto, Carolina Moreno, Diana Martins, Patrícia Oliveira, Teresa Martins, Sofia Almeida Martins, Olinda Marques, Carla Meireles, António Garrão, Cláudia Nogueira, Carla Baptista, Susana Gama-de-Sousa, Cláudia Amaral, Mariana Martinho, Catarina Limbert, Luisa Barros, Inês Henriques Vieira, Teresa Sabino, Luís R Saraiva, Manuel Carlos Lemos

Hum Reprod Open. 2024; 2024(3): hoae053. Published online 2024 Sep 11. doi: 10.1093/hropen/hoae053

PMCID:: PMC11415827

Article PDF–793K

Select item 1139052510.

Gene-environment interaction in functional hypothalamic amenorrhea

Federica Barbagallo, David Bosoni, Valeria Perone, Laura Cucinella, Davide Dealberti, Rossella Cannarella, Aldo E. Calogero, Rossella E. Nappi

Front Endocrinol (Lausanne) 2024; 15: 1423898. Published online 2024 Aug 29. doi: 10.3389/fendo.2024.1423898

PMCID:: PMC11390525

Article PDF–1019K

Select item 1137848111.

Exploring the link between chromosomal polymorphisms and reproductive abnormalities

Haiyan Pang, Tong Zhang, Xin Yi, Xiaojing Cheng, Guiling Wang

Reprod Health. 2024; 21: 130. Published online 2024 Sep 5. doi: 10.1186/s12978-024-01854-6

PMCID:: PMC11378481

Article PDF–738K

Select item 1137088712.

PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism

Bradley A. Welch, Hyun-ju Cho, Seyit Ahmet Ucakturk, Stephen Matthew Farmer, Semra Cetinkaya, Ayhan Abaci, Gamze Akkus, Enver Simsek, Leman Damla Kotan, Ihsan Turan, Fatih Gurbuz, Bilgin Yuksel, Susan Wray, A. Kemal Topaloglu

J Neuroendocrinol. Author manuscript; available in PMC 2024 Sep 3.

Published in final edited form as: J Neuroendocrinol. 2022 Apr; 34(4): e13103. Published online 2022 Feb 16. doi: 10.1111/jne.13103

PMCID:: PMC11370887

Article PDF–1.7M

Select item 1136445813.

S-Nitrosoglutathione Reductase (GSNOR) Deficiency Results in Secondary Hypogonadism

Thomas A. Masterson, Himanshu Arora, Shathiyah Kulandavelu, Rona S. Carroll, Ursula B. Kaiser, Sakir H. Gultekin, Joshua M. Hare, Ranjith Ramasamy

J Sex Med. Author manuscript; available in PMC 2024 Aug 30.

Published in final edited form as: J Sex Med. 2018 May; 15(5): 654–661. Published online 2018 Mar 30. doi: 10.1016/j.jsxm.2018.03.002

PMCID:: PMC11364458

Article PDF–1.1M

Select item 1132573214.

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism

Yassine Zouaghi, Anbreen Mazhar Choudhary, Saba Irshad, Michela Adamo, Khaleeq ur Rehman, Ambrin Fatima, Mariam Shahid, Nida Najmi, Fernanda De Azevedo Correa, Imen Habibi, Alexia Boizot, Nicolas J. Niederländer, Muhammad Ansar, Federico Santoni, James Acierno, Nelly Pitteloud

BMC Genomics. 2024; 25: 787. Published online 2024 Aug 14. doi: 10.1186/s12864-024-10598-3

PMCID:: PMC11325732

Article PDF–1.8M

Select item 1128021315.

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations

Yu-Fan Yang, Hai-Lu Ma, Xi Wang, Min Nie, Jiang-Feng Mao, Xue-Yan Wu

Asian J Androl. 2024 Jul-Aug; 26(4): 426–432. Published online 2024 Jan 9. doi: 10.4103/aja202366

PMCID:: PMC11280213

Article PDF–843K

Select item 1125791216.

Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12

Nur Berna Celik, Abdullah Sezer, Nebiyye Genel, Senay Savas-Erdeve, İbrahim Karaman, Semra Cetinkaya

Front Endocrinol (Lausanne) 2024; 15: 1426916. Published online 2024 Jul 5. doi: 10.3389/fendo.2024.1426916

PMCID:: PMC11257912

Article PDF–889K

Select item 1125548017.

Weight Loss Improved Hypothalamic GH Deficiency but not Hypogonadotropic Hypogonadism in a Man With Down Syndrome

Yukie Nakagawa, Katsumi Taki

JCEM Case Rep. 2024 Jul; 2(7): luae114. Published online 2024 Jul 18. doi: 10.1210/jcemcr/luae114

PMCID:: PMC11255480

Article PDF–258K

Select item 1124687818.

Variety of genetic defects in GnRH and hypothalamic–pituitary signaling and development in normosmic patients with IHH

Małgorzata Kałużna, Bartłomiej Budny, Michał Rabijewski, Agnieszka Dubiel, Małgorzata Trofimiuk-Müldner, Kosma Szutkowski, Adam Piotrowski, Elżbieta Wrotkowska, Alicja Hubalewska-Dydejczyk, Marek Ruchała, Katarzyna Ziemnicka

Front Endocrinol (Lausanne) 2024; 15: 1396805. Published online 2024 Jul 1. doi: 10.3389/fendo.2024.1396805

PMCID:: PMC11246878

Article PDF–7.9M

Select item 1121273819.

Management of male obesity-related secondary hypogonadism: A clinical update

Mohan T Shenoy, Sunetra Mondal, Cornelius James Fernandez, Joseph M Pappachan

World J Exp Med. 2024 Jun 20; 14(2): 93689. Published online 2024 Jun 20. doi: 10.5493/wjem.v14.i2.93689

PMCID:: PMC11212738

Article

Select item 1118927920.

Role of Inhibin B, AMH, GnRHa Test and HCG Stimulation Test to Distinguish Isolated Hypogonadotropic Hypogonadism (IHH) from Constitutional Delay in Growth and Puberty (CDGP)

Bijay K. Sahoo, Padala Ravi Kumar, Sudhi Ranjan Pattanaik, Deepak Kumar Dash, Debasish Patro, Radhakrishna Telagareddy

Indian J Endocrinol Metab. 2024 Mar-Apr; 28(2): 153–159. Published online 2023 Nov 24. doi: 10.4103/ijem.ijem_146_23

PMCID:: PMC11189279

Article PDF–978K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 623

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity