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Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Short stature is a common complaint among pediatric visits and the differential diagnosis is extensive. Although some variations in growth are normal, deviation from normal growth is often the first symptom of chronic disease in children. This is true for hormone abnormalities including growth hormone deficiency, hypothyroidism and glucocorticoid excess.
View Article and Find Full Text PDFA rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
Oxf Med Case Reports
January 2025
Nursing Department Communicable Diseases Center, Hammad Medical Corporation, Doha 3050, Qatar.
Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia.
View Article and Find Full Text PDFBone Microstructure and Bone Strength Among Patients with Pseudohypoparathyroidism.
Calcif Tissue Int
December 2024
Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, No. 1 Shuaifuyuan Wangfujing, Beijing, 100730, China.
The present study aimed to assess bone strength and microstructure in patients with pseudohypoparathyroidism (PHP), nonsurgical HP (NS-HP), and healthy controls. A total of 54 PHP1 patients (14 PHP1a, 40 PHP1b), 54 age-/sex- matched NS-HP patients and 27 age-/sex-matched controls were enrolled. Clinical characteristics, biochemical indices and HR-pQCT indices were respectively collected.
View Article and Find Full Text PDFRecurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.
JCI Insight
December 2024
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Article Synopsis
- - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
- - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
- - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
Vitamin D-dependent Rickets Type 1A Mimicking Pseudohypoparathyroidism in Presence of Active Tuberculosis.
JCEM Case Rep
October 2024
Department of Endocrinology, Kalinga Institute of Medical Sciences, Bhubaneswar 751024, Odisha, India.
Article Synopsis
- Vitamin D-dependent rickets type 1A is an autosomal recessive disorder caused by mutations in a specific gene, leading to reduced production of active vitamin D in the kidneys.
- A case of a 16-year-old Asian male with growth issues, bone deformities, and abnormal biochemical markers was initially misdiagnosed with pseudohypoparathyroidism due to low vitamin D and calcium and high phosphorus levels.
- Molecular testing showed he had a novel mutation associated with vitamin D-dependent rickets type 1A, and high phosphorus levels were later attributed to concurrent extrapulmonary tuberculosis.
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