Brief Communication

A rare case of SilverRussell syndrome associated

with growth hormone deficiency and urogenital
abnormalities
Namburi Rajendra Prasad, Ponnala Amaresh Reddy, T. S. Karthik, Mithun Chakravarthy, Faizal Ahmed
Department of Endocrinology, Narayana Medical College and Hospital, Chinthareddypalem, Nellore, Andhra Pradesh, India

A B S T R A C T
Introduction: SilverRussell 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
(<3rdcentile) 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 (<3rdcentile) and weight was 18 kg which
were low (<3rdcentile) as per his age. He was biochemically euthyroid and GH stimulation testing with clonidine (0.15 mg/m2) 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 10cm/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.
Key words: Silver-Russell syndrome, growth hormone deficiency, urogenital anomalies

Introduction
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
SilverRussell syndrome (SRS). It is characterized by short
stature, frontal bossing, small triangular facies, sparse

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DOI:
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subcutaneous tissue, shortened and incurved 5thfingers,

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
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 than 1500 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.

Corresponding Author: Dr. Ponnala Amaresh Reddy, Department of Endocrinology, Narayana Medical College and Hospital, Chinthareddypalem,
Nellore, Andhra Pradesh, India. E-mail: amareshreddy7@gmail.com

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Prasad, et al.: Silver-Russell syndrome

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 (<3rdcentile) and weight was 18 kg
which were low (<3rdcentile) 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/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 [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.

Discussion
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

Figure 1: The phenotypic appearance of the child hemihypertrophy of

the right side

S308

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

Figure 2: Micturationcystourethrogram shows grade V complex on right side

Indian Journal of Endocrinology and Metabolism / Vol 16 / Supplement 2

Prasad, et al.: Silver-Russell syndrome

to be screened for them. GH deficiency is not uncommon

in SRS, and GH treatment proves to be beneficial.

4.
5.

References

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1.

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Silver HK, Kiyasu W, George J, Deamer WC. Syndrome of congenital

hemihypertrophy, shortness of stature, and elevated urinary
gonadotropins. Pediatrics 1953;12:368-76.

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.

3.

Kumar S, Jain A, Agrawal S, Chandran S. SilverRussell syndrome:

A case report. Cases J 2008;1:304.

Li YX, Yan C. Endocrinology of pediatrics. Beijing: Peoples Health

Publishing House; 1991. p. 49-50.
Rossignol S. SilverRussell syndrome and its genetic origins.
JEndocrinol Invest 2006;29:9-10.
Haslam RH, Berman W, Heller RM. Renal abnormalities in the
RussellSilver syndrome. Pediatrics 1973;51:216-22.
Eggermann T, Meyer E, Ranke MB, Holder M, Spranger S, Zerres K,
et al. Diagnostic proceeding in SilverRussell syndrome. MolDiagn
2005;9:205-9.

Cite this article as: Prasad NR, Reddy PA, Karthik TS, 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:S307-9.
Source of Support: Nil, Conflict of Interest: None declared

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