Congenital urogenital abnormalities in children with congenital hypothyroidism

Abstract

Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 healthy children, as the control group, were selected using convenient sampling. For all children, demographic data checklists were filled, and physical examination, abdomen and pelvic ultrasound and other diagnostic measures (if necessary) were performed to evaluate the congenital urogenital abnormalities including anomalies of the penis and urethra, and disorders and anomalies of the scrotal contents. Results: Among 92 (100%) urogenital anomalies diagnosed, highest frequencies with 37 (40.2%), 26(28.2%) and 9 (9.7%) cases including hypospadias, Cryptorchidism, and hydrocele, respectively. The frequency of urogenital abnormalities among 32 children with PCH, with 52 cases (56.5%) was significantly higher than the frequency of abnormalities among the 21 children in the control group, with 40 cases (43.4%). (OR=2.04; 95%CI: 1.1-3.6; p=0.014). Conclusion: Our study demonstrated that PCH is significantly associated with the congenital urogenital abnormalities. However, due to the lack of evidence in this area, further studies are recommended to determine the necessity of conducting screening programs for abnormalities of the urogenital system in children with CH at birth.

Extrathyroidal congenital defects in children with congenital hypothyroidism – observations from a single paediatric centre in Central Europe with a review of literature

“…As well as playing a key role in the organogenesis of the thyroid gland, the expression of the PAX8 gene is important in the development of organs of hearing, the central nervous system, and development of the kidneys [4,5,9,22,23]. In our study five children (9.25%) from the studied group were found to have genitourinary defects (the frequency of urinary system abnormalities in the general population according to the Polish Registrar for Congenital Diseases is 0.20%, and for genital system anomalies is 0.12%).…”

“…Yousefichaijan et al determined genitourinary anomalies in 43 out of 100 children with CH, the most common defects being hydronephrosis and urethral stricture [22]. In another study, Yousefichaijan et al found abnormalities in the genitourinary system in 32 out of 100 children with CH, the most common defects being cryptorchidism and hydrocele [9]. Reports of co-occurrence of agenesis/dysgenesis of kidneys, polycystic kidney diseases like glomerulocystic disease (GCKD) and autosomal recessive kidney disease (ARPKD), and other abnormalities of the genitourinary system have been described [22][23][24][25].…”

“…As mentioned in the introduction, multiple hypotheses are taken into consideration [6][7][8][9]. The cause of various extrathyroidal abnormalities in patients with CH is often attributed to the lack of metabolic activity of the thyroid hormone.…”

“…There are multiple factors that are thought to cause these defects to occur together. In the literature several risk factors are highlighted, such as the lack of metabolic hormones produced by the thyroid gland as well as lack of iodine in organogenesis, exposure to environmental risk factors and teratogens, consanguinity of parents, and ethnic background [6][7][8][9]. The most recent observations suggest that genetic risk factors play the most important role.…”

“…The most recent observations suggest that genetic risk factors play the most important role. According to this data, genes that are critical in the proper functioning and structure of the thyroid gland are also important in the normal functioning and structure of extrathyroidal structures [1,2,[4][5][6][7][8][9].…”