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Congenital hypogonadotropic hypogonadism complicated by neuroblastoma.
- Source :
-
Clinical Pediatric Endocrinology . 2022, Vol. 31 Issue 3, p159-162. 4p. - Publication Year :
- 2022
-
Abstract
- A 3-mo-old male infant was referred to our hospital with micropenis. Since his serum LH, FSH, and testosterone levels were low (< 0.3 mIU/mL, 0.08 mIU/mL, and < 0.03 ng/mL, respectively), Kallmann syndrome/ normosmic hypogonadotropic hypogonadism was suspected. In the process of searching for complications of Kallmann syndrome/normosmic hypogonadotropic hypogonadism, a right adrenal gland tumor was incidentally discovered. The patient was diagnosed with stage 1 neuroblastoma. A homozygous p.P147L (c.C440T) mutation in the KISS1R gene was detected as a cause of the congenital hypogonadotropic hypogonadism. KISS1-KISS1R signaling, which is essential for GnRH secretion, exhibits anti-metastatic and/or anti-tumoral roles in numerous cancers. High KISS1 expression levels reportedly predict better survival outcomes than low KISS1 expression levels in neuroblastoma. Therefore, decreased KISS1-KISS1R signaling may have played a role in the neuroblastoma in this patient. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 09185739
- Volume :
- 31
- Issue :
- 3
- Database :
- Academic Search Index
- Journal :
- Clinical Pediatric Endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 158461272
- Full Text :
- https://doi.org/10.1297/cpe.2021-0070