الفهرس 
CONGENITAL ADRENAL HYPERPLASIAOnly 14 pages are availabe for public view
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Abstract
C
ongenital adrenal hyperplasia is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis associated with androgen excess due to deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex, the most common type is 21-OHD represented 90–95% of all cases. There are two clinical forms of 21-OHD: a classic form and a non-classic form.
Gonadal dysfunction is one of the most important long-term complications in both sexes in CAH which might become apparent during childhood and could be caused by primary gonadal failure due to testicular adrenal rest tumors in male and ovarian adrenal rest tumors and polycystic ovaries in female, and by secondary gonadal failure due to poor hormonal control.
Long-standing TARTs could lead to irreversible testicular damage, and early recognition and treatment might prevent fertility problems. OARTs could impair ovarian function in CAH females by displacing normal ovarian tissue and by locally producing steroids, which interfere with normal ovarian function.
The aim of study was to detect the prevalence of gonadal changes by imaging among patients with CAH and to assess the patients’ radiological findings in relation to their hormonal profile.
This observational, cross sectional study was conducted on 50 patients with CAH at Endocrinology clinic, Children’s Hospital, Ain Shams University.
The main results of the study revealed that:
There were 10 patients (50.0%)with TARTs, of which 8 patients (80.0%) had bilateral TARTs, while 2 patients (20.0%) had unilateral TARTs. TARTs were detected in 2 children between 5 and 10 years and the other 8 children were above 10 years.
The youngest child with TARTs was 5 years old. TARTs were 50 % isoechoic and 50 % hypoechoic. we described calcification in two patients with TARTs.
The mean largest diameter of right and left rest tumors was 1.19 cm (range 0.42 – 2.1cm) and 0.88 cm (range 0.4 – 1.5cm) respectively.
The mean daily hydrocortisone treatment was 14.71 mg/m2/day with a range of 8.3 – 21.13 mg/m2.
There were 48.1% of the studied patients had I2 splice (c.290-13A/C>G) genotype followed by P30L (c.89C>T) genotype (40.7%).
There were 44.4% (12/27) of the studied patients were classified as genotype null, 14.8% (4/27) as genotype A, 3.7%(1/27) as genotype B, and 37.0% (10/27) as genotype C.
There was no significant relation between presence of TARTs and genotype and genotype groups of the studied patients.
There was significant relation between presence of TARTs and each of weight SDS, BMI, BMI SDS and current bone age.
There was no significant relation between presence of TARTS and laboratory parameters and treatment received.
There was significant correlation between Tanner testicular volume and mean testicular volume by ultrasound.
There was one female patient had bilateral polycystic ovaries (prevalence 3.3%) and none had ovarian adrenal rest tumors.
The mean largest diameter of right ovary and left ovary was 2.05 cm with a range of 1.2 – 3.6 cm and 1.94 cm with a range of 1.1 – 4 cm respectively.
CONCLUSION
I
n conclusion, gonadal dysfunction can appear in early childhood and the prevalence of TARTs in our study among CAH patients is high (50%), highlighting the importance of TARTs screening in children with CAH. Annual screening of children with CAH using testicular ultrasonography for early detection and management is highly recommended to prevent more complications. We would suggest that routine ovarian imaging in CAH females is not indicated. However, when ovarian dysfunction is present, ovarian imaging is advised. Further studies with larger sample size and longer follow-up are needed to confirm our results and to identify more risk factors for TARTs.