Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFα, or KISS1

Yee Ming Chan, Kristina A. Simeone, Sophia Paraschos, Laura Muhammad, Matthew M. Troester, Yu Tze Ng, Roger E. Johnsonbaugh, Stephen W. Coons, Erin C. Prenger, John F. Kerrigan, Stephanie B. Seminara

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Background/Aims: Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor α (TGFα), and GRM1A, which encodes the type 1 metabotropic glutamate receptor α isoform. We sought to determine whether hamartomas that cause CPP could be distinguished by anatomic features, expression of these molecules, or expression of KISS1, whose products signal through the receptor GPR54 to stimulate GnRH release. Methods: Clinical records and radiologic images were reviewed for 18 patients who underwent hamartoma resection for intractable seizures; 7 had precocious puberty. Resected tissue was examined for expression of GnRH, GnRH receptor (GnRHR), TGFα, KISS1, GPR54, and GRM1A. Results: Hypothalamic hamartomas associated with CPP were more likely to contact the infundibulum or tuber cinereum and were larger than hamartomas not associated with CPP. GnRH, TGFα, and GnRHR were expressed by all hamartomas studied. Expression of KISS1, GPR54, and GRM1A did not differ significantly between hamartomas associated and not associated with CPP. Conclusion: Anatomic features rather than expression patterns of candidate molecules distinguish hypothalamic hamartomas that are associated with CPP from those that are not.

Original languageEnglish
Pages (from-to)312-319
Number of pages8
JournalHormone Research in Paediatrics
Volume73
Issue number5
DOIs
StatePublished - Apr 2010

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Transforming Growth Factors
Hamartoma
Gonadotropin-Releasing Hormone
LHRH Receptors
Tuber Cinereum
Precocious Puberty
Growth Factor Receptors
Pituitary Gland
Hypothalamic hamartomas
Central Precocious Puberty
Protein Isoforms
Seizures

All Science Journal Classification (ASJC) codes

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

Cite this

Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFα, or KISS1. / Chan, Yee Ming; Simeone, Kristina A.; Paraschos, Sophia; Muhammad, Laura; Troester, Matthew M.; Ng, Yu Tze; Johnsonbaugh, Roger E.; Coons, Stephen W.; Prenger, Erin C.; Kerrigan, John F.; Seminara, Stephanie B.

In: Hormone Research in Paediatrics, Vol. 73, No. 5, 04.2010, p. 312-319.

Research output: Contribution to journalArticle

Chan, YM, Simeone, KA, Paraschos, S, Muhammad, L, Troester, MM, Ng, YT, Johnsonbaugh, RE, Coons, SW, Prenger, EC, Kerrigan, JF & Seminara, SB 2010, 'Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFα, or KISS1', Hormone Research in Paediatrics, vol. 73, no. 5, pp. 312-319. https://doi.org/10.1159/000308162
Chan, Yee Ming ; Simeone, Kristina A. ; Paraschos, Sophia ; Muhammad, Laura ; Troester, Matthew M. ; Ng, Yu Tze ; Johnsonbaugh, Roger E. ; Coons, Stephen W. ; Prenger, Erin C. ; Kerrigan, John F. ; Seminara, Stephanie B. / Central precocious puberty due to hypothalamic hamartomas correlates with anatomic features but not with expression of GnRH, TGFα, or KISS1. In: Hormone Research in Paediatrics. 2010 ; Vol. 73, No. 5. pp. 312-319.
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abstract = "Background/Aims: Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor α (TGFα), and GRM1A, which encodes the type 1 metabotropic glutamate receptor α isoform. We sought to determine whether hamartomas that cause CPP could be distinguished by anatomic features, expression of these molecules, or expression of KISS1, whose products signal through the receptor GPR54 to stimulate GnRH release. Methods: Clinical records and radiologic images were reviewed for 18 patients who underwent hamartoma resection for intractable seizures; 7 had precocious puberty. Resected tissue was examined for expression of GnRH, GnRH receptor (GnRHR), TGFα, KISS1, GPR54, and GRM1A. Results: Hypothalamic hamartomas associated with CPP were more likely to contact the infundibulum or tuber cinereum and were larger than hamartomas not associated with CPP. GnRH, TGFα, and GnRHR were expressed by all hamartomas studied. Expression of KISS1, GPR54, and GRM1A did not differ significantly between hamartomas associated and not associated with CPP. Conclusion: Anatomic features rather than expression patterns of candidate molecules distinguish hypothalamic hamartomas that are associated with CPP from those that are not.",
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AU - Simeone, Kristina A.

AU - Paraschos, Sophia

AU - Muhammad, Laura

AU - Troester, Matthew M.

AU - Ng, Yu Tze

AU - Johnsonbaugh, Roger E.

AU - Coons, Stephen W.

AU - Prenger, Erin C.

AU - Kerrigan, John F.

AU - Seminara, Stephanie B.

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N2 - Background/Aims: Hypothalamic hamartomas are the most common identifiable cause of central precocious puberty (CPP). Hamartoma characteristics proposed to be associated with CPP include specific anatomic features and expression of molecules such as gonadotropin-releasing hormone (GnRH), transforming growth factor α (TGFα), and GRM1A, which encodes the type 1 metabotropic glutamate receptor α isoform. We sought to determine whether hamartomas that cause CPP could be distinguished by anatomic features, expression of these molecules, or expression of KISS1, whose products signal through the receptor GPR54 to stimulate GnRH release. Methods: Clinical records and radiologic images were reviewed for 18 patients who underwent hamartoma resection for intractable seizures; 7 had precocious puberty. Resected tissue was examined for expression of GnRH, GnRH receptor (GnRHR), TGFα, KISS1, GPR54, and GRM1A. Results: Hypothalamic hamartomas associated with CPP were more likely to contact the infundibulum or tuber cinereum and were larger than hamartomas not associated with CPP. GnRH, TGFα, and GnRHR were expressed by all hamartomas studied. Expression of KISS1, GPR54, and GRM1A did not differ significantly between hamartomas associated and not associated with CPP. Conclusion: Anatomic features rather than expression patterns of candidate molecules distinguish hypothalamic hamartomas that are associated with CPP from those that are not.

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