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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Causes Enlarged Spleen And Parathyroid In A 9 Year Old?

i have a 9 year old son, who has been overweight since two months of age. he had trouble eating as an infant, colic, jaundice and hypospadia. then he started overeating all the time and having projectile vomiting. he was obese by the time he was 1. we have never been able to get his weight under control, despite close watch on his diet and daily exercise. in the meantime, he still has retractable testicles, low hormone levels (esp testosterone). his doctor found a thyroid nodule on his last year which was 1mm. it is now 2mm with a possible abnormality in the parathyroid. he also has an ast of 71, alk phosphatase of 471, and alt of 207 and an enlarged spleen. no one here can figure out what is going on with him. he is being referred to a specialist out of state in a few days. any idea what i should expect or what other tests i may ask to have done on him? any insight at all? any guidance would be appreciated!
Wed, 18 Nov 2015
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Pediatrician, Pulmonology 's  Response
Hi...By what you quote I feel that your kid is having all the features of Prader Willli Syndrome. If I were your pediatrician I would suggest working up in the lines of Prader Willil Syndrome.

These are the tests i would suggest -

Genetic testing for Prader-Willi syndrome (PWS) includes chromosomal or microarray analysis and assessment for methylation patterns in the Prader-Willi syndrome region.

Fasting measurements of serum insulinlike growth factor-1 (IGF-1) and insulinlike growth factor binding protein-3 (IGFBP-3) levels are good screening measurements for underlying growth hormone deficiency.

Measure glycosylated hemoglobin inpatients with Prader-Willi syndrome who are obese to assess for the development of type 2 diabetes mellitus as clinically warranted, especially if the patient is taking growth hormone supplementation.
Evaluate patients with Prader-Willi syndrome for biochemical evidence of pickwickian syndrome (eg, hypercarbia, polycythemia) as clinically warranted.
Regards - Dr. Sumanth
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What Causes Enlarged Spleen And Parathyroid In A 9 Year Old?

Hi...By what you quote I feel that your kid is having all the features of Prader Willli Syndrome. If I were your pediatrician I would suggest working up in the lines of Prader Willil Syndrome. These are the tests i would suggest - Genetic testing for Prader-Willi syndrome (PWS) includes chromosomal or microarray analysis and assessment for methylation patterns in the Prader-Willi syndrome region. Fasting measurements of serum insulinlike growth factor-1 (IGF-1) and insulinlike growth factor binding protein-3 (IGFBP-3) levels are good screening measurements for underlying growth hormone deficiency. Measure glycosylated hemoglobin inpatients with Prader-Willi syndrome who are obese to assess for the development of type 2 diabetes mellitus as clinically warranted, especially if the patient is taking growth hormone supplementation. Evaluate patients with Prader-Willi syndrome for biochemical evidence of pickwickian syndrome (eg, hypercarbia, polycythemia) as clinically warranted. Regards - Dr. Sumanth