A rare case of Silver–Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

INTRODUCTION: Silver–Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body. BACKGROUND: We are presenting a case of SRS with growth hormone (GH) deficiency and urogenital abnormalities. CASE REPORT: A 15-year-old boy a product of non-consanguineous marriage brought with a history of short stature and poor development of secondary sexual characters. There were no adverse perinatal events, but weighed 1500 g (<3(rd)centile) at birth. He had delayed developmental milestones. He has had a poor appetite and feeding difficulties since childhood. On physical examination, he had a broad forehead, triangular facies, and low-set prominent ears. Asymmetry of the face, upper and lower extremities was noted, with hemihypertrophy on the right side. His height was 119 cm (<3(rd)centile) and weight was 18 kg which were low (<3(rd)centile) as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m(2)) showed low GH levels at 30′, 60′, and 90′ were 1.7, 1.6, and 1.1ng/ml, respectively. On micturatingcystourethrogram, grade V complex was noted on the right side. Dimercaptosuccinic acid (DMSA) showed normal functioning kidneys. He was started on recombinant GH with a height velocity of 10 cm/year. CONCLUSION: Urogenital abnormalities are rare but well described anomalies associated with SRS, and all cases have to be screened for them. GH deficiency is not uncommon in SRS, and GH treatment proves to be beneficial.