Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan.

Objective: The objective of this study was to determine the frequency of different congenital cardiac defects co-existing in karyotypically proved Down syndrome population. It also highlighted the association between gender and pattern of congenital cardiac defects and gender as a risk factor. Methods: A cross sectional comparative study was done in the Department of Genetics, Children Hospital Lahore in the year 2017. A total of 160 patients were subjected to karyotypic analysis through blood test for determining the type of Down Syndrome and Echocardiography of all established cases was performed for determining presence and types of congenital cardiac defects. Results were evaluated in terms of establishing co-existence of various cardiac phenotypes in Down Syndrome cases. Results: In karyotypically proven 160 cases of Down syndrome, 58.1% of Down Syndrome cases and 88.2% of Down Syndrome with Congenital Cardiac Defects presented in infancy. The odds ratio (OR) suggested that females are 1.72 times more likely to experience a cardiac effect compared to males. Female gender was potentially associated (p-value 0.07) with occurrence of Patent Ductus Arteriosus (47.8%), whereas VSD (Ventricular Septal Defects) was most prevalent (41.1%) in males. Patent Ductus Arteriosus + Atrial Septal Defects (44.4%) was the commonest cardiac defect in female cases. The combined data for pattern of cardiac anomalies showed no significant association with gender, as indicated by a p-value of 0.990. Conclusion: The study concluded that most of Down syndrome cases and Down syndrome with congenital cardiac defects present to the hospital in infancy. Female cases are more prone to develop cardiac defects as compared to males. The manifestation of PDA (Patent Ductus Arteriosus) was significantly associated as an isolated anomaly in females and VSD (Ventricular Septal Defects) as isolated anomaly in males. Patent Ductus Arteriosus tend to co-exist most with ASD (Atrial Septal Defects) in female cases. Gender was not established as a risk factor for affecting the pattern of cardiac defects.

Cytogenetic study of subtypes of Down syndrome and its relation with pattern of congenital cardiac defects.

OBJECTIVE: To determine the frequency of subtypes of Down syndrome by karyotyping, and to establish the frequency of congenital cardiac defects in this population. METHODS: The cross-sectional study was conducted at the Department of Genetics, Children Hospital, Lahore, Pakistan, from June 2016 to June 2017, and comprised of Down Syndrome patients aged <15 years. They were subjected to karyotypic analysis for determining the subtype of the syndrome, and echocardiography of all cases was done for the assessment of congenital cardiac defects. The two findings was subsequently used to establish a relation between the subtypes and congenital cardiac defects. Data collected, entered and analyzed by the SPSS version 20.0. RESULTS: Among the 160 cases, trisomy 21 was found in 154(96.2%), translocation 5(3.1%) and mosaicism 1(0.6%). Overall, 63(39.4%) children had cardiac defects. Among such patients, patent ductus arteriosus was most common 25(39.7%), followed by ventricular septal defects24(38.1%), atrial septal defects16(25.4%), complete atrioventricular septal defects 8(12.7%), and Tetralogy of Fallot3(4.8%), while 6(9.5%) children had other defects. Atrial septal defects was the most common double defect 9(56.2%) and had the highest coexistence with patent ductus arteriosus in Down syndrome cases with congenital cardiac defects. CONCLUSIONS: In Trisomy 21, the most common cardiac defect was patent ductus arteriosus, followed by ventricular septal defects in isolated defects, whereas in mixed defects, atrial septal defects and patent ductus arteriosus were the highest.

Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan.

OBJECTIVE: To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD). METHODS: This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex. RESULTS: Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2). CONCLUSION: Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders.