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Table 2 Imaging examination in this patient with 22q11.2 deletion syndrome

From: Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature

 

Normal

2017

2019

2021

Enhanced MRI of pituitary

normal

Low signal nodule 0.4 cm in diameter

Low signal nodule 0.5 cm in diameter

-

Echocardiography

LA 28–32 mm

LV 47 mm

EF 61%

-

LA 36 mm

LV 47 mm

EF 61%

LA 39 mm

LV 55 mm

EF58%

Holter ECG of HRV

normal

moderate reduction

severe reduction

severe reduction

OSAHS

-

moderate

Severe

Severe

Thyroid ultrasound

normal

Right thyroid nodule (10 × 5 × 7 mm)

nodular goiter?

Right thyroid nodule (13 × 8 × 10 mm

nodular goiter?

-

Testicular Sonographic Color Doppler ultrasound

Bilateral testicles

size 40 × 30 × 30 mm

volume 15–20 ml

left testis

size 20 × 15 × 33 mm

volume 7 ml

right testis

size 23 × 16 × 31 mm

volume 8 ml

left testis

size 20 × 14 × 31 mm

volume 6.1 ml

right testis

size 23 × 16 × 30 mm

volume 7.8 ml

-

  1. Abbreviations: ECG Electrocardiogram, MRI Magnetic resonance imaging, HRV Heart rate variability, OSAHS Obstructive sleep apnea hypopnea syndrome, LV Left ventricular, LA Left atrium, LVEF Left ventricular ejection fraction
  2. - means that the laboratory data were not obtained