PMC9938537_01
(a) Family diagram of patients; (b) CYP17A1 gene sequencing 1; genetic testing revealed that the cytosine (nucleotide C) at the site 181 of the 17alpha-hydroxylase-related CYP17 gene underwent a synonymous mutation and was changed to thymine (nucleotide T); and (c) CYP17A1 gene sequencing 2; genetic testing revealed that the guanine (nucleotide G) at the site 238 of the 17alpha-hydroxylase-related CYP17 gene underwent a synonymous mutation and was changed to thymine (nucleotide T); (d) CYP17A1 gene sequencing 3; genetic testing revealed that the cytosine (nucleotide C) at the site 1226 of the 17alpha-hydroxylase-related CYP17 gene underwent a missense mutation and was changed to guanine (nucleotide G); (e) karyotype.
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The family tree is shown in Figure 1a. Table 1 and Figure 1b-e. The laboratory test results are shown in Table 2.
(a) Non-enhanced and enhanced CT scanning of adrenal gland; (b) transvaginal ultrasound of the female reproductive system 1, the female reproductive system was examined using transvaginal ultrasonography, and the results showed that the uterus was small (2.6 cm x 2.6 cm x 2.1 cm) and that the shape was regular; (c) transvaginal ultrasound of the female reproductive system 2, both the ovaries were small, the size of the left ovary was c. 2.5 cm x 1.2 cm, and the size of the right ovary was c. 2.4 cm x 1.4 cm. This needs to be differentiated from the ovaries of postmenopausal women because the vulva of this patient also shows undeveloped performance, which is different from the vulva of postmenopausal women, the reason for the small ovaries of this patient might be caused by pathological factors. (d) MRI1 of pituitary gland; (e) MRI 2 of pituitary gland.
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The largest slice (c. 2.9 cm x 2.4 cm) was located on the left side (image in Figure 2a). The female reproductive system was examined using transvaginal ultrasonography, and the results showed that the uterus was small (2.6 cm x 2.6 cm x 2.1 cm) and that the shape was regular (image in Figure 2b). Both ovaries were small; the size of the left ovary was c. 2.5 cm x 1.2 cm, and the size of the right ovary was c. 2.4 cm x 1.4 cm (Figure 2c). The pituitary magnetic resonance imaging results showed an abnormal signal considered to be Rathke's cyst at the posterior lobe junction (Figure 2d). Abnormal enhancement, which might refer to pituitary microadenoma, was further found on the right side of pituitary gland (Figure 2e).