ArticleIndian journal of endocrinology and metabolism2012
A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities.
Article in Indian journal of endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 9 citations in OpenAlex.
- What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.Journal of clinical medicine · 2021Article
- [Rare diseases with clinical relevance-the Silver-Russell syndrome].Der Urologe. Ausg. A · 2017Review
- Russell-Silver syndrome associated with low conus medullaris.Journal of pediatric neurosciencesArticle
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5 authors at 1 institution in 1 country.
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Abstract
introductionSilver-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.
backgroundWe 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.
conclusionUrogenital 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.
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