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Select item 109773531.

How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism

Wanxue Xu, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian, Margaret F. Lippincott

Hum Genet. Author manuscript; available in PMC 2024 Mar 28.

Published in final edited form as: Hum Genet. 2023 Nov; 142(11): 1611–1619. Published online 2023 Oct 7. doi: 10.1007/s00439-023-02601-w

PMCID:: PMC10977353

Article PDF–661K

Select item 109613562.

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato

Front Genet. 2024; 15: 1354715. Published online 2024 Mar 11. doi: 10.3389/fgene.2024.1354715

PMCID:: PMC10961356

Article PDF–2.0M

Select item 109385263.

A Novel KISS1R Loss-of-function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism

Peng Zhou, Jin Wu

J Clin Res Pediatr Endocrinol. 2024 Mar; 16(1): 91–94. Published online 2024 Mar 11. doi: 10.4274/jcrpe.galenos.2022.2022-3-18

PMCID:: PMC10938526

Article PDF–204K

Select item 109302924.

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism

ZENG Wang, LI Jiada, WANG Xinying, JIANG Fang, MEN Meichao

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 847–857. doi: 10.11817/j.issn.1672-7347.2022.220071

PMCID:: PMC10930292

Article PDF–1.0M

Select item 108997175.

Heavy Metal Levels in Males With Idiopathic Hypogonadotropic Hypogonadism

Serpil Ciftel, Alev Lazoglu Ozkaya

Cureus. 2024 Jan; 16(1): e53128. Published online 2024 Jan 28. doi: 10.7759/cureus.53128

PMCID:: PMC10899717

Article PDF–115K

Select item 108264806.

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

Kentaro Ichioka, Takeshi Yoshikawa, Hiroko Kimura, Ryoichi Saito

BMJ Case Rep. 2024; 17(1): e258042. Published online 2024 Jan 25. doi: 10.1136/bcr-2023-258042

PMCID:: PMC10826480

Article PDF–1.7M

Select item 107843407.

Whole-Exome Sequencing Analysis of Idiopathic Hypogonadotropic Hypogonadism: Comparison of Varicocele and Nonobstructive Azoospermia

Ziyang Ma, Yi Dai, Lei Jin, Yi Luo, Chen Guo, Rui Qu, Shengyin He, Yugao Liu, Yu Xia, Huan Liu, Lingnan Kong, Miaomiao Xu, Lanlan Zhang, Yue Zhao, Yushanjiang Suliya, Dongzhi Yuan, Luo Yang

Reprod Sci. 2024 Jan; 31(1): 222–238. Published online 2023 Sep 7. doi: 10.1007/s43032-023-01337-2

PMCID:: PMC10784340

Article PDF–975K

Select item 107736698.

Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis

Emma C Alexander, Duaa Faruqi, Robert Farquhar, Ayesha Unadkat, Kyla Ng Yin, Rebecca Hoskyns, Rachel Varughese, Sasha R Howard

Eur J Endocrinol. 2024 Jan; 190(1): S1–S11. Published online 2023 Dec 21. doi: 10.1093/ejendo/lvad166

PMCID:: PMC10773669

Article PDF–972K

Select item 107501619.

Digenic CHD7 and SMCHD1 inheritance Unveils phenotypic variability in a family mainly presenting with hypogonadotropic hypogonadism

Tian Wang, Wu Ren, Fangfang Fu, Hairong Wang, Yan Li, Jie Duan

Heliyon. 2024 Jan 15; 10(1): e23272. Published online 2023 Dec 6. doi: 10.1016/j.heliyon.2023.e23272

PMCID:: PMC10750161

Article PDF–5.8M

Select item 1070896410.

Epiphysiolysis in a 22-year-old Patient with Congenital Hypogonadotropic Hypogonadism: Case Report

Alexandre Pedro Nicolini, Claudio Takashi Kuga

Rev Bras Ortop (Sao Paulo) 2023 Dec; 58(6): e960–e963. Published online 2021 Apr 19. doi: 10.1055/s-0041-1726071

PMCID:: PMC10708964

Article PDF–1.2M

Select item 1068904211.

Evaluation of sexual functional status and consistency of scales in patients with hypogonadotropic hypogonadism before and after testosterone replacement therapy: a single-center experience

Umit Aydogan, Yusuf Cetin Doganer, Cem Haymana, Umit Kaplan, Aydogan Aydogdu, Ibrahim Demirci, Coskun Meric, Yusuf Alper Sonmez

Arch Endocrinol Metab. 2023 Mar-Apr; 67(2): 179–188. Published online 2022 Dec 1. doi: 10.20945/2359-3997000000539

PMCID:: PMC10689042

Article PDF–443K

Select item 1065031212.

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism

Pavlos Fanis, Vassos Neocleous, Irene Papapetrou, Leonidas A. Phylactou, Nicos Skordis

Int J Mol Sci. 2023 Nov; 24(21): 15965. Published online 2023 Nov 4. doi: 10.3390/ijms242115965

PMCID:: PMC10650312

Article PDF–2.3M

Select item 1059606013.

Application of Human Menopausal Gonadotropins in the Treatment of Idiopathic Hypogonadotropic Hypogonadism (IHH)-Based Infertility in Females: A Case Report

Ying-Jie Ma, Meng-Yao Li, Jing-Yan Song, Zhen-Gao Sun

Int Med Case Rep J. 2023; 16: 699–704. Published online 2023 Oct 20. doi: 10.2147/IMCRJ.S428018

PMCID:: PMC10596060

Article PDF–326K

Select item 1056034814.

Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism

Yuanfan Wang, Weijun Jiang, Xinyi Xia

Transl Androl Urol. 2023 Sep 30; 12(9): 1397–1407. Published online 2023 Aug 21. doi: 10.21037/tau-23-225

PMCID:: PMC10560348

Article PDF–5.8M

Select item 1055737115.

Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report

Qingqing Tian, Jingjing Tang, Lihong Wang, Jiaojiao Liu, Xiangshan Li, Zhuozhuo Cao, Zhufang Tian

BMC Endocr Disord. 2023; 23: 213. Published online 2023 Oct 5. doi: 10.1186/s12902-023-01455-7

PMCID:: PMC10557371

Article PDF–1.1M

Select item 1054782116.

Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism

Dongye He, Hailing Sun, Mei Zhang, Yanying Li, Fupeng Liu, Yanhong Zhang, Mingming He, Bo Ban

Int J Gen Med. 2023; 16: 4429–4439. Published online 2023 Sep 29. doi: 10.2147/IJGM.S430904

PMCID:: PMC10547821

Article PDF–3.0M

Select item 1044078217.

Retrospective study on long-term effects of hormone replacement therapy (HRT) and iron chelation therapy on glucose homeostasis and insulin secretion in female ß- thalassemia major (β-TM) patients with acquired hypogonadotropic- hypogonadism (AHH)

Vincenzo De Sanctis, Shahina Daar, Ashraf T Soliman, Ploutarchos Tzoulis, Salvatore Di Maio, Christos Kattamis

Acta Biomed. 2023; 94(4): e2023195. Published online 2023 Aug 3. doi: 10.23750/abm.v94i4.14631

PMCID:: PMC10440782

Article PDF–1.0M

Select item 1042294918.

A functional spectrum of PROKR2 mutations identified in isolated hypogonadotropic hypogonadism

Xinying Wang, Danna Chen, Yaguang Zhao, Meichao Men, Zhiheng Chen, Fang Jiang, Ruizhi Zheng, Maria I Stamou, Lacey Plummer, Ravikumar Balasubramanian, Jia-Da Li

Hum Mol Genet. 2023 May 15; 32(10): 1722–1729. Published online 2023 Jan 25. doi: 10.1093/hmg/ddad014

PMCID:: PMC10422949

Article PDF–595K

Select item 1034436219.

New perspectives in functional hypogonadotropic hypogonadism: beyond late onset hypogonadism

Matteo Spaziani, Francesco Carlomagno, Chiara Tarantino, Francesco Angelini, Ludovica Vincenzi, Daniele Gianfrilli

Front Endocrinol (Lausanne) 2023; 14: 1184530. Published online 2023 Jun 29. doi: 10.3389/fendo.2023.1184530

PMCID:: PMC10344362

Article PDF–1.1M

Select item 1031098120.

Reproductive Phenotypes in Men With Acquired or Congenital Hypogonadotropic Hypogonadism: A Comparative Study

Luigi Maione, Julie Sarfati, Céline Gonfroy-Leymarie, Sylvie Salenave, Sylvie Brailly-Tabard, Philippe Chanson, Séverine Trabado, Ursula B Kaiser, Jacques Young

J Clin Endocrinol Metab. 2022 Jul; 107(7): e2812–e2824. Published online 2022 Mar 31. doi: 10.1210/clinem/dgac194