Home | About us | Editorial board | Search | Ahead of print | Current issue | Archives | Submit article | Instructions | Subscribe | Contacts | Advertise | Login 
 
Search Article 
  
Advanced search 
  Users Online: 1172 Home Print this page Email this page Small font sizeDefault font sizeIncrease font size  

 
Table of Contents
BRIEF COMMUNICATION
Year : 2012  |  Volume : 16  |  Issue : 8  |  Page : 307-309

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


Department of Endocrinology, Narayana Medical College and Hospital, Chinthareddypalem, Nellore, Andhra Pradesh, India

Date of Web Publication4-Jan-2013

Correspondence Address:
Ponnala Amaresh Reddy
Department of Endocrinology, Narayana Medical College and Hospital, Chinthareddypalem, Nellore, Andhra Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2230-8210.104070

Rights and Permissions
   Abstract 

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.

Keywords: Silver-Russell syndrome, growth hormone deficiency, urogenital anomalies


How to cite this article:
Prasad NR, Reddy PA, Karthik T S, Chakravarthy M, Ahmed F. A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. Indian J Endocr Metab 2012;16, Suppl S2:307-9

How to cite this URL:
Prasad NR, Reddy PA, Karthik T S, Chakravarthy M, Ahmed F. A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities. Indian J Endocr Metab [serial online] 2012 [cited 2020 Nov 24];16, Suppl S2:307-9. Available from: https://www.ijem.in/text.asp?2012/16/8/307/104070


   Introduction Top


Silver and Russell were the first to describe a syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, hemihypertrophy, disproportionately short arms, and other anomalies. [1],[2] Although each of the two authors described rather different findings, the composite features were later identified with the combined term Silver- Russell syndrome More Details (SRS). It is characterized by short stature, frontal bossing, small triangular facies, sparse subcutaneous tissue, shortened and incurved 5 th fingers, and in many cases, asymmetry. The diagnosis is based on distinct prenatal growth restriction and the presence of typical dysmorphic features, including short stature and limb asymmetry. [3] Here, we are presenting a case of SRS with growth hormone (GH) deficiency and urogenital abnormalities.


   Case Report Top


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 (<3 rd centile) and length was 43 cm(<3 rd centile). 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.

On 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 [Figure 1]. His height was 119 cm (<3 rd centile) and weight was 18 kg which were low (<3 rd centile) as per his age. No cafe-au-lait macules were noted.

All basic investigations were within the normal limit. On provocative GH stimulation with clonidine (0.15 mg/m 2 ) 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 [Figure 2]. 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.
Figure 1: The phenotypic appearance of the child – hemihypertrophy of the right side

Click here to view
Figure 2: Micturationcystourethrogram shows grade V complex on right side

Click here to view



   Discussion Top


SRS is also called asymmetry dwarf-dysgenesis syndrome. [4] SRS was first described by Silver and colleagues in 1953 and later by Russell in 1954. Clinically and genetically SRS is a heterogeneous disorder, and the underlying defect is unknown. Chromosome abnormalities have been found to be associated with the disease; among them chromosomes 7 and 17 are frequently involved. In 7% of sporadic cases, maternal uniparentaldisomy of chromosome 7 has been detected. Recent findings suggested that imprinting defects in the region of 11p15 also play a role in SRS. [5] Over, the past several years, more than 400 patients with mild to classic phenotypes have been described. The estimated incidence of SRS ranged from 1 in 3000 to 1 in 100,000 but therewas no such epidemiological data available in India. Male and female children are equally affected.

The clinical features of SRS involve poor growth, low birth weight, short height, asymmetry betweentwo sides of the body, and genital anomalies.In our case, the involved diagnostic features were intrauterine growth restriction, a triangular-shaped face, asymmetry of the face, upper and lower extremities with hemihypertrophy on the right side. Haslametal. [6] reported renal abnormalities (abnormal excretory urograms, unilateral chronic pyelonephritis, unilateral ureteropelvic obstruction, severe vesicoureteral reflux, and unilateral pyelonephritis). The prevalence of these abnormalities in SRS necessitates a complete urogenital evaluation, including appropriate radiologic examinations.

Pathophysiologically, growth failure is a primary abnormality. Patients typically present with intrauterine growth retardation, difficulty in feeding, failure to thrive, or postnatal growth retardation. Adequate catch up growth often does not occur, and GH insufficiency may be present and subnormal responses to provocative GH stimulation have been reported in a significant number of children with SRS. [7] GH therapy is often considered for a child with SRS who has not manifested adequate catch-up growth at the age of 2 years. The use of GH was approved by the US Food and Drug Administration in 2001 in children born small for gestational age who have not yet manifested adequate catch-up growth at the age of 2 years.

In 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.

 
   References Top

1.Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368-76.  Back to cited text no. 1
[PUBMED]    
2.Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040-4.  Back to cited text no. 2
[PUBMED]    
3.Kumar S, Jain A, Agrawal S, Chandran S. Silver-Russell syndrome: A case report. Cases J 2008;1:304.  Back to cited text no. 3
[PUBMED]    
4.Li YX, Yan C. Endocrinology of pediatrics. Beijing: People's Health Publishing House; 1991. p. 49-50.  Back to cited text no. 4
    
5.Rossignol S. Silver-Russell syndrome and its genetic origins. J Endocrinol Invest 2006;29:9-10.  Back to cited text no. 5
[PUBMED]    
6.Haslam RH, Berman W, Heller RM. Renal abnormalities in the Russell-Silver syndrome. Pediatrics 1973;51:216-22.  Back to cited text no. 6
[PUBMED]    
7.Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K, et al. Diagnostic proceeding in Silver-Russell syndrome. MolDiagn 2005;9:205-9.  Back to cited text no. 7
[PUBMED]    


    Figures

  [Figure 1], [Figure 2]



 

Top
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
    Abstract
   Introduction
   Case Report
   Discussion
    References
    Article Figures

 Article Access Statistics
    Viewed1474    
    Printed28    
    Emailed0    
    PDF Downloaded202    
    Comments [Add]    

Recommend this journal