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Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy.

Mascarenhas JV, Ayyar VS - Indian J Endocrinol Metab (2012)

Bottom Line: Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 μg/l, 60 min=0.27 μg/l, 120 min=4.73 μg/l).Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05).Bone age at 9 yr. was between 7-8 years.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, St. John's Medical College, Bangalore, India.

ABSTRACT
A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and bilateral clinodactyly. He had a birth weight of 2.14 kg and an expected target height of 170 cm. He was subjected to a hormonal analysis which revealed a normal thyroid profile, but low serum markers of growth namely IGF-1=68 ng/ml (52-297 ng/ml) and basal growth hormone (GH) (1.5 μg/l). No defects were detected on MRI of the sella. Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 μg/l, 60 min=0.27 μg/l, 120 min=4.73 μg/l). He was commenced on rhGH therapy at 8 years of age (height=102 cm, SDS=-4.53), due to financial restraints. Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05). Bone age at 9 yr. was between 7-8 years.

No MeSH data available.


Related in: MedlinePlus

Phenotypic appearance portraying short stature with pseudomacrocephaly, triangular facies and body asymmetry
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Figure 1: Phenotypic appearance portraying short stature with pseudomacrocephaly, triangular facies and body asymmetry

Mentions: Russell Silver Syndrome (RSS) is a heterogenous syndrome, characterized by intrauterine and postnatal growth retardation with relative macrocephaly (sparing of cranial growth), triangular face, bilateral clinodactyly, congenital body asymmetry and feeding difficulties [Figures 1 and 2]. It is a rare genetic cause of syndromic short stature which is occasionally associated with growth hormone deficiency [Figures 3 and 4].


Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy.

Mascarenhas JV, Ayyar VS - Indian J Endocrinol Metab (2012)

Phenotypic appearance portraying short stature with pseudomacrocephaly, triangular facies and body asymmetry
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3475919&req=5

Figure 1: Phenotypic appearance portraying short stature with pseudomacrocephaly, triangular facies and body asymmetry
Mentions: Russell Silver Syndrome (RSS) is a heterogenous syndrome, characterized by intrauterine and postnatal growth retardation with relative macrocephaly (sparing of cranial growth), triangular face, bilateral clinodactyly, congenital body asymmetry and feeding difficulties [Figures 1 and 2]. It is a rare genetic cause of syndromic short stature which is occasionally associated with growth hormone deficiency [Figures 3 and 4].

Bottom Line: Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 μg/l, 60 min=0.27 μg/l, 120 min=4.73 μg/l).Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05).Bone age at 9 yr. was between 7-8 years.

View Article: PubMed Central - PubMed

Affiliation: Department of Endocrinology, St. John's Medical College, Bangalore, India.

ABSTRACT
A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and bilateral clinodactyly. He had a birth weight of 2.14 kg and an expected target height of 170 cm. He was subjected to a hormonal analysis which revealed a normal thyroid profile, but low serum markers of growth namely IGF-1=68 ng/ml (52-297 ng/ml) and basal growth hormone (GH) (1.5 μg/l). No defects were detected on MRI of the sella. Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 μg/l, 60 min=0.27 μg/l, 120 min=4.73 μg/l). He was commenced on rhGH therapy at 8 years of age (height=102 cm, SDS=-4.53), due to financial restraints. Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05). Bone age at 9 yr. was between 7-8 years.

No MeSH data available.


Related in: MedlinePlus