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A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis.
J Clin Res Pediatr Endocrinol. 2009; 1(5):244-7.JC

Abstract

Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2-year-old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism.

Authors+Show Affiliations

Department of Pediatrics, New York University Medical Center, New York 10016, USA.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21274302

Citation

Lubell, Tamar, et al. "A Novel Mutation Causing Pseudohypoparathyroidism 1A With Congenital Hypothyroidism and Osteoma Cutis." Journal of Clinical Research in Pediatric Endocrinology, vol. 1, no. 5, 2009, pp. 244-7.
Lubell T, Garzon M, Anyane Yeboa K, et al. A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. J Clin Res Pediatr Endocrinol. 2009;1(5):244-7.
Lubell, T., Garzon, M., Anyane Yeboa, K., & Shah, B. (2009). A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. Journal of Clinical Research in Pediatric Endocrinology, 1(5), 244-7. https://doi.org/10.4274/jcrpe.v1i5.244
Lubell T, et al. A Novel Mutation Causing Pseudohypoparathyroidism 1A With Congenital Hypothyroidism and Osteoma Cutis. J Clin Res Pediatr Endocrinol. 2009;1(5):244-7. PubMed PMID: 21274302.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation causing pseudohypoparathyroidism 1A with congenital hypothyroidism and osteoma cutis. AU - Lubell,Tamar, AU - Garzon,Maria, AU - Anyane Yeboa,Kwame, AU - Shah,Bina, Y1 - 2009/08/06/ PY - 2009/06/27/received PY - 2009/08/05/accepted PY - 2011/1/29/entrez PY - 2009/9/1/pubmed PY - 2011/12/16/medline KW - Pseudohypoparathyroidism KW - congenital hypothyroidism KW - osteoma cutis SP - 244 EP - 7 JF - Journal of clinical research in pediatric endocrinology JO - J Clin Res Pediatr Endocrinol VL - 1 IS - 5 N2 - Various inactivating mutations in guanine nucleotide-binding protein, alpha-stimulating activity polypeptide1 (GNAS1) gene have been described with poor phenotype correlation. Pseudohypoparathyroidism type 1a (PHP1a) results from an inactivating mutation in the GNAS1 gene. Hormone resistance occurs not only to parathyroid hormone (PTH), but typically also to other hormones which signal via G protein coupled receptors including thyroid stimulating hormone (TSH), gonadotropins, and growth hormone releasing hormone. In addition, the phenotype of Albright hereditary osteodystrophy (AHO) is observed, which may include short stature, round facies, brachydactyly, obesity, ectopic soft tissue or dermal ossification (osteoma cutis) and psychomotor retardation with variable expression. We present a 2-year-old boy with PHP 1A who initially presented at age 3 weeks with congenital hypothyroidism. By 17 months of age, he manifested osteoma cutis, psychomotor retardation, obesity, brachydactyly and resistance to PTH with normocalcemia and mild hyperphosphatemia. Genetic analysis revealed a novel mutation in exon 13 of GNAS1 in our patient. This mutation, c.1100_1101insA, resulted in a frameshift and premature truncation of bases downstream. This mutation was also found in the mother of this patient who was also noted to have short stature, obesity, brachydactyly and non progressive osteoma cutis, but no hormone resistance.We report a novel heterozygous mutation causing PHP1A with PTH and TSH resistance and AHO which has not been described previously. PHP1A is also a rare presentation of congenital hypothyroidism. SN - 1308-5735 UR - https://www.unboundmedicine.com/medline/citation/21274302/A_novel_mutation_causing_pseudohypoparathyroidism_1A_with_congenital_hypothyroidism_and_osteoma_cutis_ L2 - https://doi.org/10.4274/jcrpe.v1i5.244 DB - PRIME DP - Unbound Medicine ER -