[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].

Objective: To investigate PHEX gene mutations in 2 patients with X-linked hypophosphatemic rickets (XLH) and their families and to clarify the genetic etiology.

Methods: A retrospective analysis was performed for the clinical data of two patients with XLH. High-throughput sequencing was used to detect the PHEX gene, a pathogenic gene of XLH.

[Dehydroepiandrosterone sulfate and insulin of prepubertal girls born small for gestational age].

Objectives: To investigate whether the association between low birth weight and increased risk of developing premature adrenarche, adrenal hyperandrogenism, hyperinsulinism and insulin resistance is apparent in prepubertal girls born small for gestational age (SGA) and analyze when adrenarche occurs in SGA infants and normal birth weight girls.

Methods: The study was performed in 39 prepubertal SGA girls with a mean age of 7.4 +/- 1.