Objective: To understand the clinical characteristics, etiological distribution and related metabolic problems of children with premature pubarche.
Methods: The clinical data of 55 cases of premature pubarche were summarized. All the children were tested by ACTH stimulation test and GnRHa stimulation test, of which 17 cases were detected by CYP21A2 gene,and 16 cases of Premature Adrenarche (PA) and 14 cases of Isolated Premature Pubarche (IPP) were analyzed by metabolic profile.
Results: 9 of 55 children with premature pubarche were diagnosed as Nonclassical Congenital Adrenal Hyperplasia (NCCAH). There was no significant difference in the diagnostic rate of NCCAH between ACTH stimulation test and CYP21A2 gene detection (P=0.596). The etiological analysis showed that 19 cases were diagnosed as Central Precocious Puberty (CPP), 30 cases were diagnosed as PA (16 cases were simple PA), and 14 cases were diagnosed as IPP. 16 cases simple PA, 14 cases IPP and 20 cases of control normal children were analyzed by metabolic profiles. The results showed that the sex hormone binding protein (SHBP) in the PA group was lower than that of the control group (P=0.007), while the free androgen index (FAI), fasting blood glucose (FBG) and insulin resistance index (HOMA-IR) were all increased (P= 0.002, 0.040 and 0.038, respectively). There was significant difference in BMISDS between the IPP group and the control group (P=0.007), but the difference of SHBP, FAI, FBG and HOMA-IR were not significant (all P value was greater than 0.05).
Conclusions: The etiology of premature pubarche are Premature Adrenarche, followed by Central Precocious Puberty, Isolated Premature Pubarche and Nonclassical congenital adrenal hyperplasia. The ACTH stimulation test is useful for the diagnosis of NCCAH, but the sensitivity is not 100%. The children with PA may be a forerunner of metabolic syndrome, long-term follow-up is important.
Keywords: Premature Pubarche, ACTH stimulation test, Nonclassical congenital adrenal hyperplasia, Premature Adrenarche
19 - 21 Sep 2019
European Society for Paediatric Endocrinology