Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency.

In contrast to the glucocorticoid maintenance therapy employed in patients with 21 hydroxylase deficiency (21OHD), the initial therapy remains to be optimized. The Japanese Society for Pediatric Endocrinology recommends a hydrocortisone (HC) dose of 25-100 mg/m2, which is higher than that employed in Western countries. Herein, we aimed to retrospectively verify the impact of initial HC treatment during infancy and early childhood. Between 2010 and 2018, 15 classical patients with 21OHD were enrolled and divided into the following groups based on initial HC therapy: high dose group (HDG, n = 6), medium dose group (MDG, n = 5), and low dose group (LDG, n = 4). In the HDG and MDG, HC was initiated at 100 mg/m2 and reduced to maintenance doses over 4-6 mo and 2-3 wk, respectively. In the LDG, HC was initiated with a maintenance dose of 7 mg/d, accompanied by fludrocortisone and oral NaCl. During the second year, 17α-hydroxyprogesterone was sufficiently suppressed in all three groups. At two years of age, no significant differences in anthropometric data were observed. Our retrospective study did not reveal any apparent advantages or disadvantages of high-dose initial HC therapy for 21OHD, and a lower dose would be preferable for the initial 21OHD treatment.

Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.

BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies and related diseases. Recently, the long-term prognosis of HSCT during childhood has greatly improved; however, the late adverse effects of HSCT have been found to cause substantial morbidity among long-term survivors. Although metabolic complications, such as diabetes mellitus (DM) and hyperlipidemia (HL), are the major late effects of pediatric HSCT, the clinical details are not clarified sufficiently. METHODS: From 1983 to 2013, 75 participants underwent HSCT in our institute because of malignant or other related diseases. We retrospectively evaluated metabolic complications of eligible 22 participants (14 men and 8 women), and their clinical backgrounds. RESULTS: Among 22 participants, 4 and 9 participants developed DM and HL after HSCT, respectively, and all participants with DM developed HL. None of the participants with DM were obese, and all had substantial insulin resistance. Total body irradiation (TBI) was performed in 10 participants, including 4 participants with DM and 5 participants with HL, revealing that TBI is an independent risk factor for DM. The age at TBI for participants with DM was significantly lower than that for participants without DM (p = 0.01), and all participants with DM received TBI before the age of 6. CONCLUSIONS: Our data suggested that TBI was a risk factor for DM after HSCT, and TBI before the age of six increased the possibility of DM without obesity.