CHARGE Association
A 17-year-old boy presented with complaints of obesity, bilateral gynecomastia, hypogonadism, and mental retardation. During examination, the patient had facial asymmetry due to unilateral facial palsy that inspired us for a detailed history and examination.\nThe patient was the first child of his parents and he was born after 10 years of infertility. He was born at term through LUCS with uneventful antenatal history. There was no history of drug intake or radiation exposure in the antenatal period. Family history was not significant. The mother gave history of delayed attainment of milestones.\nHe was admitted in hospital 2 months after birth with feeding difficulty and inadequate weight gain. He was diagnosed with heart failure and treated with digoxin, captopril, and frusemide. Echocardiography at that time revealed a large perimembranous ventricular septal defect (VSD) with large L→R shunt and severe pulmonary arterial hypertension and normal cardiac valves. Closure of VSD was performed with Dacron patch. He also had right-sided congenital inguinal hernia that was operated when he was 3 years old. The patient weighed 70 kg (>97th percentile) and had a height of 153 cm and BMI of 29.90. He had bilateral gynecomastia, sparse facial and axillary hair, pubic hair was at Tanner stage 3. The patient had decreased right testicular volume (4 ml) and absent left testis. Scrotal rugosity, thinning, and hyperpigmentation were present.\nThe patient had mental retardation and attention deficit hyperactivity disorder. Binetkamat test showed a prorated IQ of 61, indicating mild l mental retardation. On the Vineland Social Maturity Scale, he obtained a social age of 5 years and 9.6 months.\nThe patient also had disc coloboma, convergent squint, microcornea, microphthalmia, pseudo hypertelorism, low set ears, short neck, and bilateral choanal atresia.\nLaboratory examination revealed haemoglobin 9.9 mg/dl, urea 24 mg/dl, creatinine 0.68 mg/dl, fasting venous plasma glucose 58 mg/dl, total bilirubin 0.6 mg/dl, conjugated bilirubin 0.2 mg/dl, unconjugated bilirubin 0.4 mg/dl, SGPT 32 IU/L, SGOT 46 IU/L, ALP 262 IU/L, total protein 8 gm/dl, albumin 4g/dl, globulin 4g/dl, PTime 13.6 seconds (control 11.8 seconds), INR 1.15, totalcholesterol 167 mg/dl, HDL 53 mg/dl, LDL 97 mg/dl, VLDL 17 mg/dl, triglyceride 142 mg/dl.\nIGF1 77.80 ng/ml (decreased for age) (N range for 17 years: 193–731 ng/ml). GH <0.05 ng/ml (normal males, upto 3 ng/ml), testosterone 0.25 ng/ml (males, 1.75–7.81 ng/ ml), FSH 0.95 μIU/ml (1–14 μIU/ml), LH 0.60 μIU/ml (0.7–7.4 μIU/ml). Therefore, the patient had growth hormone deficiency and hypogonadotrophic hypogonadism.\nOther hormone assays showed ACTH 39.70 pg/ml (0–46 pg/ml), FT3 6.42 pmol/l (3.10–6.80 pmol/l), FT4 1.36 ng/dl (0.93–1.7 ng/dl), TSH 2.79 μIU/ml (0.27–4.2 μIU/ml), 8:00 A.M. cortisol 8.71 mcg/dl (6.2–19.4 mcg/dl), DHEA-S 96.2 mcg/dl (males, 80–560 mcg/dl), estradiol 23.1 pg/ml (males, 20–75 pg/ml). Prolactin was elevated at 38.50 ng/ml (2.1–17.7 ng/ml). The patient karyotype was 46XY.\nImaging echocardiography revealed ventricularseptal defect closed with patch, grade 1 aortic regurgitation and ejection fraction of 67%.\nUSG of both testes revealed small right testis within the scrotal sac (size 16 × 12 × 8 mm approximately) with preserved shape. Undescended ill developed small left testis present within left inguinal canal with thin and narrow spermatic cord attached to it. Sonomammography revealed bilateral proliferation of fibroglandular elements predominantly in subareoalar region of breasts. No focal space occupying lesion was noticed.\nComputed tomography scan paranasal sinuses revealed choanalatresia [] and deviation of anterior cartilaginous nasal septum.\nMRI of the brain showed markedly atrophic pituitary gland parenchyma with preserved infundibulum and hypothalamus. Suprasellar cistern was widened.\nThus, the patient had a combination of abnormal facies, disccoloboma, retardation of growth and development, genital hypoplasia, ventricular septal defect, and ear anomalies, which is consistent with diagnosis of CHARGE association.