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Xu et al. J Transl Genet Genom 2023;7:87-93 https://dx.doi.org/10.20517/jtgg.2023.10 Page 77
Figure 1. Treatment and changes in single deepest pocket during pregnancy.
Figure 2. Pedigree of the case in this report (A) and Sanger sequencing of exon 6 in the MAGED2 gene (B). The proband is indicated by
a slope arrow, and the changed nucleotide is indicated by the vertical arrows. N: normal sequence.
The female gave birth to a preterm male baby infant born via vaginal delivery at 34 + 6 WG with birth
weight of 2,900 g (P85) and length of 50 cm (P50). The newborn baby’s 1 min Apgar score was 9 (muscle
tone-1) and the 5 min Apgar score was 10. He did not develop obvious polyuria. Although he had a high
blood level of renin (> 500 mU/L, reference range 2.8-39.9 mU/L) and aldosterone (> 100 ng/dL, reference
range 3.0-23.6 ng/dL), his postnatal blood pressure (60/39 mmHg) and biochemical blood data were normal
[Table 1]. Head ultrasound showed mild bilateral intraventricular hemorrhage. Kidney ultrasound and
newborn hearing screening did not detect any abnormalities. At the age of 20 months old, he showed good
development (height was 91.5 cm and weight was 13 kg) without polyuria.
