Central precocious puberty in Klinefelter syndrome: A case report with longitudinal follow‐up of growth pattern

Abstract

We report idiopathic central precocious puberty in a boy with Klinefelter syndrome and describe the pattern of linear growth and body proportion from the onset of precocious puberty to final height. The patient was not treated for precocious puberty. He reached adequate adult height, for both general population and normative values of Klinefelter syndrome and normal body proportions. We conclude that precocious puberty in Klinefelter syndrome may result in normal body proportion by inducing a major growth spurt of the trunk rather than in the limbs, and that adult height prognosis is not altered by precocious puberty. Given the possible occurrence of precocious puberty in Klinefelter syndrome, we advise a karyotype analysis in boys with sexual precocity, mainly in those who show small rather than enlarged testes. © 1996 Wiley‐Liss, Inc.

Do reduced levels of steroid 21-hydroxylase confer a survival advantage in fetuses affected by sex chromosome aberrations?

“…Precocious puberty is thought to occur more frequently in boys affected by Klinefelter syndrome than would be expected by chance. 12,13 Since true precocious puberty has been associated with heterozygosity for CYP21 gene mutations, 7,8 our results regarding Klinefelter syndrome could also explain the increased frequency of sexual precocity found in this syndrome. In addition, our results confirm on a molecular level our previously reported hormonal and biochemical data in patients with Turner syndrome.…”

Central precocious puberty as a prelude to hypogonadism in a patient with Klinefelter syndrome

“…The main points addressed in previous discussions of patients with KFS combined with CPP are as follows: (1) the X chromosome dosage compensation effect, (2) involvement of the X chromosome in the abnormal expression of special genes, and (3) abnormal expression of the androgen receptor. However, these three mechanisms might not sufficiently explain the underlying cause o f KFS combined with CPP for the reasons described below.…”

“…Focusing on KFS combined with CPP, we searched the literature using the keywords "Klinefelter," "precocious puberty," and "gonad dysplasia" in Medline, PubMed, Embase, and CNKI up to July 2017. Nine articles described precocious puberty [4][5][6][7][8][9][10][11][12] and four articles [5][6][7][8] described ectopic secretion of human chorionic gonadotropin by endocrine tumors (three cases of 47,XXY and one case of 48,XXYY). Another five articles described cases of non-mosaic KFS combined with central sexual precocity.…”

Central precocious puberty as a prelude of gonad dysplasia

“…KFS patients typically exhibit incomplete pubertal development, whereas a combination with CPP is very rare. We found nine studies on precocious puberty, four studies on endocrine tumors of human chronic gonadotropins ectopic secretion, including three cases of 47, XXY and one case of 48, XXYY, 4‐8 and five non‐mosaic cases of KFS combined with central sexual precocity. The main observations in KFS patients with CPP are: (1) an X chromosome dose compensation effect; (2) the X chromosome shows abnormal expression of particular genes; and (3) abnormal expression of the androgen receptor.…”