Recent Studies from University Hospital Add New Data to Congenital Hypothyroidism and Genetics (Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism)

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Date: May 2, 2015
Publisher: NewsRX LLC
Document Type: Report
Length: 392 words

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By a News Reporter-Staff News Editor at Pediatrics Week -- Research findings on Endocrine System Diseases and Conditions are discussed in a new report. According to news reporting out of Nancy, France, by VerticalNews editors, research stated, "Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia and hyperphosphatemia associated with a GNAS (guanine nucleotide-binding protein alpha-subunit) mutation (PHP1A) or epimutation (PHP1B). To determine the presence of hypothyroidism at birth we conducted a retrospective study in our cohort of patients presenting with either PHP1A (n = 116) or PHP1B (n = 99)."

Our news journalists obtained a quote from the research from University Hospital, "We also investigated patients presenting at birth with congenital hypothyroidism (CH) and a eutopic thyroid gland for phosphocalcium abnormalities suggesting PTH resistance and PHP. Our study reveals CH as the earliest diagnostic clue for PHP1A, but not for PHP1B. We estimated the frequency of CH at birth to be between 8 and 34% in patients presenting with PHP1A. The elevation of phosphatemia and PTH concentration precedes hypocalcemia in PHP1A. Conversely, the frequency of PHP1A in patients presenting CH is dramatically low. This may be due to the low prevalence of PHP1A which remains unknown."

According to the news editors, the research concluded: "Subclinical and overt hypothyroidism can occur in PHP1A patients at birth many years before PTH resistance becomes clinically apparent. Although such cases appear to be rare, some pediatric patients with unexplained CH are likely to benefit from measuring calcium, phosphorus, and PTH for extended periods of time."

For more information on this research see: Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism. Hormone Research in Paediatrics, 2015;83(2):111-117. Hormone Research in Paediatrics can be contacted at: Karger, Allschwilerstrasse 10, Ch-4009 Basel, Switzerland. (Karger -; Hormone Research in Paediatrics -

Our news journalists report that additional information may be obtained by contacting C. Picard, CHU Nancy, Serv Dermatol, Nancy, France. Additional authors for this research include A. Decrequy, D. Guenet, A.C. Bursztejn, D. Toledano, N. Richard and M.L. Kottler.

Keywords for this news article include: Nancy, France, Europe, Dwarfism, Endocrinology, Thyroid Diseases, Endocrine Bone Diseases, Musculoskeletal Diseases, Congenital Hypothyroidism, Genetic Diseases and Disorders, Endocrine System Diseases and Conditions

Our reports deliver fact-based news of research and discoveries from around the world. Copyright 2015, NewsRx LLC

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Gale Document Number: GALE|A415767376