case_images: PMC11266075_01
case_images: (A) Schematic diagram of the PRKAR1A gene and its encoded protein structure; (B) Nucleotide sequence of exon 5 of PRKAR1A and its translated amino acid sequence.
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case_images: f1
case_images: After long-term follow-up, the patient's condition was stable, with weight loss, facial moon facies disappeared ( Figure 2E ), waist circumference reduction, significantly lower cortisol levels, and normal blood lipids ( Figure 4 ,  Table 1 ).
case_images: (A) Full moon face, pigmented moles on the lips; (B) Buffalo hump; (C) Purple lines on the abdomen; (D) Thin skin on both lower limbs, exposed veins; (E) Two years after undergoing unilateral adrenalectomy, the patient's full moon face disappeared during follow-up. (F) Abdominal MRI with contrast shows multiple small nodules in bilateral adrenal glands, with the largest nodule measuring approximately 10mmx9mm. (G) Abdominal MRI T2-weighted imaging demonstrates a mass in the retroperitoneal space at the level of the L3-4 vertebral bodies, measuring approximately 31mmx26mmx36mm.
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case_images: f2
case_images: Physical examination revealed that a maximum blood pressure 150/93mmHg, waist circumference 102cm, weight 70kg, height 170cm, BMI 24.22kg/m2, full moon face, several spotty skin pigmentation on the lip mucosa ( Figure 2A ), Buffalo hump ( Figure 2B ), central obesity and purple striae of the abdomen ( Figure 2C ), thin skin on both legs and bare veins ( Figure 2D ). The magnetic resonance imaging (MRI) scan revealed multiple small nodules in the bilateral adrenal glands, with the larger one measuring about 0.8cmX0.6cm ( Figure 2F ). The lumbar L3-4 vertebral body was occupied retroperitoneally, suggesting neurogenic tumor ( Figure 2G ). After long-term follow-up, the patient's condition was stable, with weight loss, facial moon facies disappeared ( Figure 2E ), waist circumference reduction, significantly lower cortisol levels, and normal blood lipids ( Figure 4 ,  Table 1 ).
case_images: (A) Whole exome sequencing revealed a heterozygous deletion mutation in PRKAR1A (c.500_502 + 8del); (B) Sanger sequencing revealed that the patient and his father had the same deletion mutation at chr17:66520216 (c.500_502 + 8del), while the mother was wild type.
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case_images: f3
case_images: The genome sequence report revealed that a novel c.500_502 + 8del in exon 5 of the PRKAR1A gene, situated on chromosome chr17:66520216 ( Figure 3 ).
case_images: Case report of follow-up time and the corresponding symptoms, signs, examination and treatment results.
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case_images: PMC11266075_01_fendo-15-1384956-g004.jpg
case_images: f4
case_images: After long-term follow-up, the patient's condition was stable, with weight loss, facial moon facies disappeared ( Figure 2E ), waist circumference reduction, significantly lower cortisol levels, and normal blood lipids ( Figure 4 ,  Table 1 ).