A rare case of Silver–Russell syndrome associated with growth hormone deficiency and urogenital abnormalities
A 15-year-old boy product of non-consanguineous marriage presentedwith a history of short stature and poor developmental of secondary sexual characters. He was the second pre-term infant, without history of birth asphyxia. At birth, his weight was less than1500 g (<3rdcentile) and length was 43 cm(<3rdcentile). He had delayed developmental milestones. He has had a poor appetite and feeding difficulties since childhood. He had one more brother with normal body habitus.\nOn physical examination, he was well-appearing, thin, and short with normal head circumference, with 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 (<3rdcentile) and weight was 18 kg which were low (<3rdcentile) as per his age. No cafe-au-lait macules were noted.\nAll basic investigations were within the normal limit. On provocative GH stimulation with clonidine (0.15 mg/m2) showed low GH levels at 30, 60′, and 90′ were 1.7, 1.6, and 1.1 ng/ml, respectively. On micturatingcystourethrogram, grade V complex (vesicoureteric reflex) was noted on right side reflecting abnormalities in urethral valves []. DMSA showed normal functioning kidneys. Chromosome analysis could not be done because of financial reasons. Intelligence and psychomotor development were normal as per his socioeconomic status.