|
1
|
Bangalore Krishna K, Fuqua JS and Witchel
SF: Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am.
53:279–292. 2024.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Carriço JN, Gonçalves CI, Al-Naama A, Syed
N, Aragüés JM, Bastos M, Fonseca F, Borges T, Pereira BD,
Pignatelli D, et al: Genetic architecture of congenital
hypogonadotropic hypogonadism: Insights from analysis of a
Portuguese cohort. Hum Reprod Open. 2024(hoae053)2024.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Al Sayed Y and Howard SR: Panel testing
for the molecular genetic diagnosis of congenital hypogonadotropic
hypogonadism-a clinical perspective. Eur J Hum Genet. 31:387–394.
2023.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Szeliga A, Kunicki M, Maciejewska-Jeske M,
Rzewuska N, Kostrzak A, Meczekalski B, Bala G, Smolarczyk R and
Adashi EY: The genetic backdrop of hypogonadotropic hypogonadism.
Int J Mol Sci. 22(13241)2021.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Vezzoli V, Hrvat F, Goggi G, Federici S,
Cangiano B, Quinton R, Persani L and Bonomi M: Genetic architecture
of self-limited delayed puberty and congenital hypogonadotropic
hypogonadism. Front Endocrinol (Lausanne).
13(1069741)2023.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Young J, Xu C, Papadakis GE, Acierno JS,
Maione L, Hietamäki J, Raivio T and Pitteloud N: Clinical
management of congenital hypogonadotropic hypogonadism. Endocr Rev.
40:669–710. 2019.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Salvio G, Balercia G and Kadioglu A:
Hypogonadotropic hypogonadism as a cause of NOA and its treatment.
Asian J Androl. 27:322–329. 2025.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Dwyer AA, McDonald IR and Quinton R:
Current landscape of fertility induction in males with congenital
hypogonadotropic hypogonadism. Ann NY Acad Sci. 1540:133–146.
2024.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Boehm U, Bouloux PM, Dattani MT, de Roux
N, Dodé C, Dunkel L, Dwyer AA, Giacobini P, Hardelin JP, Juul A, et
al: Expert consensus document: European Consensus Statement on
congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis
and treatment. Nat Rev Endocrinol. 11:547–564. 2015.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Haseltine KN, Chukir T, Smith PJ, Jacob
JT, Bilezikian JP and Farooki A: Bone mineral density: Clinical
relevance and quantitative assessment. J Nucl Med. 62:446–454.
2021.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Cooper TG, Noonan E, von Eckardstein S,
Auger J, Baker HW, Behre HM, Haugen TB, Kruger T, Wang C, Mbizvo MT
and Vogelsong KM: World Health Organization reference values for
human semen characteristics. Hum Reprod Update. 16:231–245.
2010.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Coviello AD, Matsumoto AM, Bremner WJ,
Herbst KL, Amory JK, Anawalt BD, Sutton PR, Wright WW, Brown TR,
Yan X, et al: Low-dose human chorionic gonadotropin maintains
intratesticular testosterone in normal men with
testosterone-induced gonadotropin suppression. J Clin Endocrinol
Metab. 90:2595–2602. 2005.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Kumar Yadav R, Qi B, Wen J, Gang X and
Banerjee S: Kallmann syndrome: Diagnostics and management. Clin
Chim Acta. 565(119994)2025.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Moalla M, Hadj Kacem F, Al-Mutery AF,
Mahfood M, Mejdoub-Rekik N, Abid M, Mnif-Feki M and Hadj Kacem H:
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes
normosmic congenital hypogonadotropic hypogonadism. Journal of
assisted reproduction and genetics. J Assist Reprod Genet.
36:1273–1280. 2019.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Hwang JS: The genes associated with
gonadotropin-releasing hormone-dependent precocious puberty. Korean
J Pediatr. 55:6–10. 2012.PubMed/NCBI View Article : Google Scholar
|
|
17
|
de Roux N, Genin E, Carel JC, Matsuda F,
Chaussain JL and Milgrom E: Hypogonadotropic hypogonadism due to
loss of function of the KiSS1-derived peptide receptor GPR54. Proc
Natl Acad Sci USA. 100:10972–10976. 2003.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Francou B, Paul C, Amazit L, Cartes A,
Bouvattier C, Albarel F, Maiter D, Chanson P, Trabado S,
Brailly-Tabard S, et al: Prevalence of KISS1 receptor mutations in
a series of 603 patients with normosmic congenital
hypogonadotrophic hypogonadism and characterization of novel
mutations: A single-centre study. Hum Reprod. 31:1363–1374.
2016.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Gaudino R, De Filippo G, Bozzola E,
Gasparri M, Bozzola M, Villani A and Radetti G: Current clinical
management of constitutional delay of growth and puberty. Ital J
Pediatr. 48(45)2022.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Lambert AS and Bouvattier C: Puberty
induction with recombinant gonadotropin: What impact on future
fertility? Ann Endocrinol (Paris). 83:159–163. 2022.PubMed/NCBI View Article : Google Scholar
|
|
21
|
Naelitz BD, Momtazi-Mar L, Vallabhaneni S,
Cannarella R, Vij SC, Parekh NV, Bole R and Lundy SD: Testosterone
replacement therapy and spermatogenesis in reproductive age men.
Nat Rev Urol. 22:703–719. 2025.PubMed/NCBI View Article : Google Scholar
|
|
22
|
Zheng Y, Bai HZ, Zhao GC, Tian K, Yue JT,
Li DM and Jiang XH: Comparison of outcomes between pulsatile
gonadotropin releasing hormone and combined gonadotropin therapy of
spermatogenesis in patients with congenital hypogonadotropic
hypogonadism. Reprod Biol Endocrinol. 23(46)2025.PubMed/NCBI View Article : Google Scholar
|
|
23
|
Lee HS, Shim YS and Hwang JS: Treatment of
congenital hypogonadotropic hypogonadism in male patients. Ann
Pediatr Endocrinol Metab. 27:176–182. 2022.PubMed/NCBI View Article : Google Scholar
|
|
24
|
Swee DS and Quinton R: Managing congenital
hypogonadotrophic hypogonadism: A contemporary approach directed at
optimizing fertility and long-term outcomes in males. Ther Adv
Endocrinol Metab. 10(2042018819826889)2019.PubMed/NCBI View Article : Google Scholar
|
|
25
|
Liu Z, Mao J, Xu H, Wang X, Huang B, Zheng
J, Nie M, Zhang H and Wu X: Gonadotropin-induced spermatogenesis in
CHH patients with cryptorchidism. Int J Endocrinol.
2019(6743489)2019.PubMed/NCBI View Article : Google Scholar
|
|
26
|
Brioude F, Bouligand J, Francou B, Fagart
J, Roussel R, Viengchareun S, Combettes L, Brailly-Tabard S, Lombès
M, Young J and Guiochon-Mantel A: Two families with normosmic
congenital hypogonadotropic hypogonadism and biallelic mutations in
KISS1R (KISS1 receptor): Clinical evaluation and molecular
characterization of a novel mutation. PLoS One.
8(e53896)2013.PubMed/NCBI View Article : Google Scholar
|
