Abnormalities in the imprinted locus on chromosome 6q24 do not necessarily cause transient neonatal diabetes. Non-penetrant 6q24-related diabetes could be an underestimated cause of early-onset, non-autoimmune diabetes in patients who are not obese and born small-for-gestational age.
The frequency of CHH genes in the Japanese was compatible with previous reports, except that CHD7 mutations might be more common. Furthermore, partial phenotype-genotype correlations were demonstrated in our cohort.
Auxological data is the gold standard index of the therapeutic condition in CYP21A2
deficiency over a long-range period, whereas urinary pregnanetriol for 24 h (PT) is
variable for a shorter-range period. Ideal PT levels in comparison with auxological data
have not been reported. The main purpose of this study was to analyze ideal PT values as
an index of optimal control for CYP21A2 deficiency. First, inter-daily fluctuation of PT
was analyzed in one participant. PT levels were distributed over a wide range of 0.44–14.7
mg/day (n=42) in this participant, suggesting that the therapeutic condition should be
judged by multiple PT samples. Second, the therapeutic periods of 15 participants with
CYP21A2 deficiency were classified using auxological data and Cushing-like symptoms, and
the PT levels were analyzed in each period retrospectively. The 95% confidence intervals
for the means of the PT levels in the excessive, good and poor control periods were
0.03–1.25 (n=26), 1.23–2.09 (n=116), and 5.35–8.37 (n=72) mg/m2/day,
respectively. In conclusion, 1.2–2.1 mg/m2/day of PT values can be used as an
index of optimal control in CYP21A2 deficiency.
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