Investigator

Rana Mahmoud

Lecturer of pediatrics · Ain Shams University Hospital

RMRana Mahmoud
Papers(1)
Gonadal changes in ch…
Institutions(1)
Ain Shams University

Papers

Gonadal changes in children and adolescents with congenital adrenal hyperplasia

Abstract Objectives Testicular adrenal rest tumours (TARTs) are a common cause of infertility in males with congenital adrenal hyperplasia (CAH). Ovarian adrenal rest tumours (OARTs) and polycystic ovaries (PCO) can impair ovarian function in female patients with CAH. We aim to detect gonadal changes in children and adolescents with CAH. Methods This study was conducted on 50 CAH patients (30 females and 20 males) with 21-hydroxylase deficiency (21-OHD), with a mean age of 10.35 ± 2.36 years. Testicular ultrasonography and pelvic magnetic resonance imaging (MRI) were done in males and females respectively. Glucocorticoid doses and biochemical data were obtained from the patients’ medical records. Results TARTs were detected in 10/20 male patients (50 %). There was a significant relation between presence of TARTs, body mass index (BMI) standard deviation score (SDS), and bone age (p=0.017 and 0.023; respectively). There was no significant relation between presence of TARTs, laboratory parameters, or treatment received (p>0.05). Of those subjected to genetic analysis, 48 % had I2 splice (c.290-13A/C>G) followed by P30L (c.89C>T) (40.7 %). P30L (c.89C>T) was the most common allele among the patients with TARTs (42.9 %). There was no significant relation between presence of TARTs, the genotype, alleles, or the genotype groups (p>0.05). Only one female patient had radiological evidence of bilateral polycystic ovaries and none had OARTs. Conclusions The prevalence of TARTs in our study was high (50 %). Screening for TARTs in males with CAH is crucial; however, routine ovarian imaging in CAH females is not indicated unless ovarian dysfunction is present.

29Works
1Papers
Adrenal Rest TumorPrognosisTesticular NeoplasmsGenetic Predisposition to DiseaseDisorder of Sex Development, 46,XY

Positions

2016–

Lecturer of pediatrics

Ain Shams University Hospital

2014–

Assistant lecturer of pediatrics

Ain Shams University Hospital

2013–

Demonstrator of pediatrics

Ain Shams University Hospital

2012–

voluntary medical practice pediatrics

Ain Shams University Hospital

2009–

pediatric resident

Ain Shams University Hospital

2008–

Medical intern

Ain Shams University Hospital

Education

2016

Medical doctorate of pediatrics

Ain Shams University Faculty of Medicine · pediatrics

2014

MRCPCH in pediatrics

Royal College of Physicians · pediatrics

2011

Master degree in pediatrics

Ain Shams University Faculty of Medicine · pediatrics

2007

Bachelor of Medicine and Surgery

Ain Shams University Faculty of Medicine