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Isolated GnRH Deficiency

MedGen UID:
893345
•Concept ID:
CN239347
•
Disease or Syndrome

Professional guidelines

PubMed

Unilateral renal agenesis as an early marker for genetic screening in Kallmann syndrome.
Stamou MI, Plummer L, Galli-Tsinopoulou A, Stergidou D, Koika V, Georgopoulos NA
Hormones (Athens) 2019 Mar;18(1):103-105. Epub 2018 Sep 25 doi: 10.1007/s42000-018-0061-1. PMID: 30255480Free PMC Article
Genetic counseling for isolated GnRH deficiency.
Au MG, Crowley WF Jr, Buck CL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):102-9. Epub 2011 Jun 1 doi: 10.1016/j.mce.2011.05.041. PMID: 21664415Free PMC Article
Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
Hall JE
Ann Endocrinol (Paris) 1999 Jul;60(2):93-101. PMID: 10456179

Recent clinical studies

Etiology

Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency.
Shirazi TN, Self H, Dawood K, Cárdenas R, Welling LLM, Rosenfield KA, Ortiz TL, Carré JM, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts DA
Psychoneuroendocrinology 2020 Sep;119:104733. Epub 2020 Jun 6 doi: 10.1016/j.psyneuen.2020.104733. PMID: 32563936Free PMC Article
Withdrawn: Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.
Stamou MI, Cox KH, Crowley WF Jr
Endocr Rev 2016 Feb;2016(1):4-22. doi: 10.1210/er.2015-1045.2016.1.test. PMID: 27454361Free PMC Article
Discovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.
Stamou MI, Cox KH, Crowley WF Jr
Endocr Rev 2015 Dec;36(6):603-21. Epub 2015 Sep 22 doi: 10.1210/er.2015-1045. PMID: 26394276Free PMC Article
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency.
Chan YM
Mol Cell Endocrinol 2011 Oct 22;346(1-2):51-6. Epub 2011 Jun 22 doi: 10.1016/j.mce.2011.06.013. PMID: 21722705Free PMC Article
Genetic counseling for isolated GnRH deficiency.
Au MG, Crowley WF Jr, Buck CL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):102-9. Epub 2011 Jun 1 doi: 10.1016/j.mce.2011.05.041. PMID: 21664415Free PMC Article

Diagnosis

Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency.
Shirazi TN, Self H, Dawood K, Cárdenas R, Welling LLM, Rosenfield KA, Ortiz TL, Carré JM, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts DA
Psychoneuroendocrinology 2020 Sep;119:104733. Epub 2020 Jun 6 doi: 10.1016/j.psyneuen.2020.104733. PMID: 32563936Free PMC Article
Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):507-515. Epub 2017 Nov 20 doi: 10.1002/ajmg.c.31585. PMID: 29152903Free PMC Article
Genetic counseling for isolated GnRH deficiency.
Au MG, Crowley WF Jr, Buck CL
Mol Cell Endocrinol 2011 Oct 22;346(1-2):102-9. Epub 2011 Jun 1 doi: 10.1016/j.mce.2011.05.041. PMID: 21664415Free PMC Article
Hypogonadotropic hypogonadism.
Hayes FJ, Seminara SB, Crowley WF Jr
Endocrinol Metab Clin North Am 1998 Dec;27(4):739-63, vii. doi: 10.1016/s0889-8529(05)70039-6. PMID: 9922906
The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.
Quinton R, Duke VM, de Zoysa PA, Platts AD, Valentine A, Kendall B, Pickman S, Kirk JM, Besser GM, Jacobs HS, Bouloux PM
J Clin Endocrinol Metab 1996 Aug;81(8):3010-7. doi: 10.1210/jcem.81.8.8768867. PMID: 8768867

Therapy

Physiologic and genetic insights into the pathophysiology and management of hypogonadotropic hypogonadism.
Hall JE
Ann Endocrinol (Paris) 1999 Jul;60(2):93-101. PMID: 10456179
Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study.
Nachtigall LB, Boepple PA, Seminara SB, Khoury RH, Sluss PM, Lecain AE, Crowley WF Jr
J Clin Endocrinol Metab 1996 Oct;81(10):3520-5. doi: 10.1210/jcem.81.10.8855795. PMID: 8855795
Increases in bone density during treatment of men with idiopathic hypogonadotropic hypogonadism.
Finkelstein JS, Klibanski A, Neer RM, Doppelt SH, Rosenthal DI, Segre GV, Crowley WF Jr
J Clin Endocrinol Metab 1989 Oct;69(4):776-83. doi: 10.1210/jcem-69-4-776. PMID: 2674186
Effects of decreasing the frequency of gonadotropin-releasing hormone stimulation on gonadotropin secretion in gonadotropin-releasing hormone-deficient men and perifused rat pituitary cells.
Finkelstein JS, Badger TM, O'Dea LS, Spratt DI, Crowley WF
J Clin Invest 1988 Jun;81(6):1725-33. doi: 10.1172/JCI113512. PMID: 3290251Free PMC Article

Prognosis

Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency.
Shirazi TN, Self H, Dawood K, Cárdenas R, Welling LLM, Rosenfield KA, Ortiz TL, Carré JM, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts DA
Psychoneuroendocrinology 2020 Sep;119:104733. Epub 2020 Jun 6 doi: 10.1016/j.psyneuen.2020.104733. PMID: 32563936Free PMC Article
Timing of peripubertal steroid exposure predicts visuospatial cognition in men: Evidence from three samples.
Shirazi TN, Self H, Cantor J, Dawood K, Cárdenas R, Rosenfield K, Ortiz T, Carré J, McDaniel MA, Blanchard R, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts D
Horm Behav 2020 May;121:104712. Epub 2020 Feb 18 doi: 10.1016/j.yhbeh.2020.104712. PMID: 32059854Free PMC Article
Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.
Cox KH, Oliveira LMB, Plummer L, Corbin B, Gardella T, Balasubramanian R, Crowley WF
Hum Mol Genet 2018 Jan 15;27(2):338-350. doi: 10.1093/hmg/ddx404. PMID: 29161432Free PMC Article
Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.
Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley WF Jr, Vallejo M
J Clin Endocrinol Metab 1997 Jan;82(1):213-7. doi: 10.1210/jcem.82.1.3692. PMID: 8989261
Inhibin B secretion in males with gonadotropin-releasing hormone (GnRH) deficiency before and during long-term GnRH replacement: relationship to spontaneous puberty, testicular volume, and prior treatment--a clinical research center study.
Nachtigall LB, Boepple PA, Seminara SB, Khoury RH, Sluss PM, Lecain AE, Crowley WF Jr
J Clin Endocrinol Metab 1996 Oct;81(10):3520-5. doi: 10.1210/jcem.81.10.8855795. PMID: 8855795

Clinical prediction guides

Pubertal timing predicts adult psychosexuality: Evidence from typically developing adults and adults with isolated GnRH deficiency.
Shirazi TN, Self H, Dawood K, Cárdenas R, Welling LLM, Rosenfield KA, Ortiz TL, Carré JM, Balasubramanian R, Delaney A, Crowley W, Breedlove SM, Puts DA
Psychoneuroendocrinology 2020 Sep;119:104733. Epub 2020 Jun 6 doi: 10.1016/j.psyneuen.2020.104733. PMID: 32563936Free PMC Article
Functional Hypogonadotropic Hypogonadism in Men: Underlying Neuroendocrine Mechanisms and Natural History.
Dwyer AA, Chavan NR, Lewkowitz-Shpuntoff H, Plummer L, Hayes FJ, Seminara SB, Crowley WF, Pitteloud N, Balasubramanian R
J Clin Endocrinol Metab 2019 Aug 1;104(8):3403-3414. doi: 10.1210/jc.2018-02697. PMID: 31220265Free PMC Article
Reproductive endocrine phenotypes relating to CHD7 mutations in humans.
Balasubramanian R, Crowley WF Jr
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):507-515. Epub 2017 Nov 20 doi: 10.1002/ajmg.c.31585. PMID: 29152903Free PMC Article
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Balasubramanian R, Choi JH, Francescatto L, Willer J, Horton ER, Asimacopoulos EP, Stankovic KM, Plummer L, Buck CL, Quinton R, Nebesio TD, Mericq V, Merino PM, Meyer BF, Monies D, Gusella JF, Al Tassan N, Katsanis N, Crowley WF Jr
Proc Natl Acad Sci U S A 2014 Dec 16;111(50):17953-8. Epub 2014 Dec 3 doi: 10.1073/pnas.1417438111. PMID: 25472840Free PMC Article
The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.
Martin C, Balasubramanian R, Dwyer AA, Au MG, Sidis Y, Kaiser UB, Seminara SB, Pitteloud N, Zhou QY, Crowley WF Jr
Endocr Rev 2011 Apr;32(2):225-46. Epub 2010 Oct 29 doi: 10.1210/er.2010-0007. PMID: 21037178Free PMC Article

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