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Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
Louden ED, Poch A, Kim HG, Ben-Mahmoud A, Kim SH, Layman LC. Louden ED, et al. Mol Cell Endocrinol. 2021 Aug 20;534:111334. doi: 10.1016/j.mce.2021.111334. Epub 2021 May 30. Mol Cell Endocrinol. 2021. PMID: 34062169 Review.
Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic, known as Kallmann syndrome (KS), is due to gonadotropin-releasing hormone deficiency, which results in absent puberty and infertility. ...The first genes for KS (ANOS1) and nH …
Hypogonadotropic hypogonadism, which may be normosmic (nHH) or anosmic/hyposmic, known as Kallmann syndrome (KS), is du …
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T. Laitinen EM, et al. PLoS One. 2012;7(6):e39450. doi: 10.1371/journal.pone.0039450. Epub 2012 Jun 19. PLoS One. 2012. PMID: 22724017 Free PMC article.
BACKGROUND: Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. ...Herein we investigated whether Finnish patients with reversal of congenital hypogonadotropic hypogonadism (HH) have common phenotypic or genotyp …
BACKGROUND: Congenital hypogonadotropic hypogonadism (HH) is a rare cause for delayed or absent puberty. ...Herein we investig …
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA, Stamou MI, Anghel E, Hornstein S, Chen D, Salnikov KB, McDonald IR, Plummer L, Seminara SB, Balasubramanian R. Dwyer AA, et al. J Clin Endocrinol Metab. 2023 Mar 10;108(4):897-908. doi: 10.1210/clinem/dgac615. J Clin Endocrinol Metab. 2023. PMID: 36268624 Free PMC article.
CONTEXT: Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous. ...RESULTS: In total, 242 men (KS: n = 131 [54%], nHH: n = 111 [46%]) were included. Men with absent puberty had significantly lower gonadotro …
CONTEXT: Isolated hypogonadotropic hypogonadism (IHH) is phenotypically and genetically heterogeneous. ...RESULTS: In total, 2 …
Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD, Bosley ME, Duckworth CG, Porter KR, Kim SH, Kim HG, Chorich LP, Sullivan ME, Choi JH, Cameron RS, Layman LC. Quaynor SD, et al. Mol Cell Endocrinol. 2016 Dec 5;437:86-96. doi: 10.1016/j.mce.2016.08.007. Epub 2016 Aug 5. Mol Cell Endocrinol. 2016. PMID: 27502037
The genetic basis is unknown for 60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from (17 male and 31 female) nHH/KS patients were analyzed by targeted next generation sequencing (NGS) of 261 genes involved in hypothal …
The genetic basis is unknown for 60% of normosmic hypogonadotropic hypogonadism (nHH)/Kallmann syndrome (KS). DNAs from …
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR. Topaloglu AK, et al. J Clin Endocrinol Metab. 2014 Oct;99(10):E2067-75. doi: 10.1210/jc.2014-1836. Epub 2014 Jul 17. J Clin Endocrinol Metab. 2014. PMID: 25033069 Free PMC article.
CONTEXT: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown. ...CONCLUSION: These resul …
CONTEXT: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism …