The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations
Abstract
INITIATION and maintenance of the reproductive axis in the human are contingent upon the pulsatile secretion of GnRH from the hypothalamus. Isolated GnRH deficiency is the clinical syndrome that results from failure of this normal pattern of episodic GnRH secretion to occur. It is characterized by 1) complete or partial absence of any endogenous GnRH-induced LH pulsations (1–5); 2) normalization of pituitary and gonadal function in response to physiological regimens of exogenous GnRH replacement (3, 4, 6–9); 3) normal findings on radiographic imaging of the hypothalamic-pituitary region, and; 4) normal baseline and reserve testing of the remainder of the hypothalamic-pituitary axes. Typically, patients with hypogonadotropic hypogonadism and anosmia have been given the diagnosis of Kallmann’s syndrome (KS), and those with normal olfaction have been diagnosed as idiopathic hypogonadotropic hypogonadism (IHH). However, both of these presentations (i.e., with and without anosmia) can occur in the same family with this disorder, thus demonstrating the variability of expression of this trait. Isolated GnRH deficiency is remarkable for its heterogeneity of clinical presentation (1, 3–5, 10, 11), variable modes of inheritance (11–17), and inconsistent association with other anomalies (11, 12, 16, 18–20).
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The GPR54 Gene as a Regulator of Puberty
Seminara, S. B., Messager, S., Chatzidaki, E. E., Thresher, R. R., Acierno, J. S., Shagoury, J. K., Bo-Abbas, Y., Kuohung, W., Schwinof, K. M., Hendrick, A. G., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa035322 · Cited by 2,557
Self-citationHypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
de Roux, N., Genin, E., Carel, J.-C., Matsuda, F., Chaussain, J.-L., & Milgrom, E. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1834399100 · Cited by 2,431
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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., et al. (2008) · Journal of Clinical Investigation · doi:10.1172/jci34538 · Cited by 397
A genetic basis for functional hypothalamic amenorrhea
Caronia, L. M., Martin, C., Welt, C. K., Sykiotis, G. P., Quinton, R., Thambundit, A., Avbelj, M., Dhruvakumar, S., Plummer, L., Hughes, V. A., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa0911064 · Cited by 256
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Metadata
- Authors
- Seminara, S. B., Hayes, F. J., & Crowley, W. F.
- Venue
- Endocrine Reviews
- Publisher
- The Endocrine Society
- Published
- 1998-10-01
- Volume
- 19
- Issue
- 5
- Pages
- 521-539
- ISSN
- 0163-769X (ISSN-L)
- 1945-7189
- OpenAlex
- W1989234389
- Cited by
- 414
- References
- 18
- FWCI
- 10.59
- Type
- journal article
- Language
- en
- Open access
- closed
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- Seminara, S. B., Hayes, F. J., & Crowley, W. F. (1998). Gonadotropin-Releasing Hormone Deficiency in the Human (Idiopathic Hypogonadotropic Hypogonadism and Kallmann’s Syndrome): Pathophysiological and Genetic Considerations. Endocrine Reviews. https://doi.org/10.1210/edrv.19.5.0344
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