Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia)

Schuster, Volker; Sandhage, K

doi:10.1007/bf00838784

Cited by 13 publications

(8 citation statements)

References 10 publications

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“…22 Persistent hyperparathyroidism is believed to have some causative role in this abnormal calcification. this situation is distinct from progressive osseous heteroplasia, 14 a rare condition that causes dermal ossification that was described earlier.…”

Section: Case Studymentioning

confidence: 99%

Pseudohypoparathyroidism type 1a and insulin resistance in a child

Nwosu

Lee

2009

Nat Rev Endocrinol

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Background. A 5-year-old white girl with a history of hypothyroidism in infancy presented to the endocrinology clinic of a tertiary hospital. Her physical examination noted a stocky physique, broad chest, short neck and short digits. Two years later, skin examination revealed subcutaneous nodules and acanthosis nigricans.Investigations. Measurement of levels of serum phosphate, parathyroid hormone, ionized calcium and insulin; measurement of peak growth hormone by the arginine-levodopa stimulation test; calculation of homeostasis model assessment of insulin resistance; assessment of bone age; DNA analysis of the GNAS gene.Diagnosis. Pseudohypoparathyroidism type 1a in a patient with Albright hereditary osteodystrophy, characterized by hypocalcemia, hypothyroidism, growth-hormone deficiency and insulin resistance.Management. The child continued to take levothyroxine 25 microg once daily, and at 5 years of age she was started on 40 mg/kg elemental calcium as calcium carbonate daily, and calcitriol (active vitamin D) 0.25 microg twice daily. Lifestyle modifications were also recommended for weight control. At 6 years and 4 months of age, treatment with growth hormone was initiated at a dose of 0.3 mg/kg weekly.

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Section: Case Studymentioning

confidence: 99%

Pseudohypoparathyroidism type 1a and insulin resistance in a child

Nwosu

Lee

2009

Nat Rev Endocrinol

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“…Though basal ganglia and periarticular soft tissues are the common sites of ectopic calcification, it occurs at various sites including choroid, retina, dura mater and ventricular septum [3][4][5]. Ectopic calcification has been noted as early as 2 weeks of life in neonates with PHP [6].…”

Section: Discussionmentioning

confidence: 99%

Intraarticular Heterotopic Ossification as the Initial Manifestation in a Child with Pseudohypoparathyroidism 1a

et al. 2011

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The authors describe a 6 year old girl who initially presented with limping due to intraarticular ossification of left knee joint but later developed carpopedal spasms. She had Albright's hereditary osteodystrophy phenotype with hypocalcemia and hyperphosphatemia with elevated parathyroid hormone. She was diagnosed to have pseudohypoparathyroidism 1a (PHP1a) with heterotopic intraarticular ossification. This case emphasizes the need for evaluation of PHP in patients with intraarticular ossification to facilitate early diagnosis of PHP.

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“…A CT scan of the skull showed extensive symmetric calcifications of the basal ganglia (caudatum and pallidum) and around the ventricles. Echocardiography revealed a single calcified lesion within the ventricular septum of the heart [23].…”

Section: Patientsmentioning

confidence: 99%

Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy

et al. 1993

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We examined a German family with five members affected by Albright hereditary osteodystrophy (AHO). The only patient with pseudohypoparathyroidism type Ia (PHP-Ia) presented clinically with latent tetany, mental retardation, round face, short stature, brachymetacarpia and calcifications of subcutaneous tissue, heart and brain, whereas all other four members with pseudopseudohypoparathyroidism (pseudo-PHP) showed only subcutaneous calcifications and brachymetaphalangia. The PHP-Ia patient exhibited hypocalcaemia, hyperphosphataemia, elevated immunoreactive parathyroid hormone (PTH), and a blunted response of cyclic adenosine monophosphate (cAMP) in plasma and urine to synthetic 1-38 hPTH. In addition, latent primary hypothyroidism was found. In contrast, all tested healthy family members as well as the patients with pseudo-PHP exhibited normal calcium metabolism including cAMP response to exogenous PTH. In Northern blot experiments all patients with AHO, regardless whether affected by PHP-Ia or pseudo-PHP, revealed significantly reduced mRNA levels coding for the alpha subunit of the G protein that stimulates adenylyl cyclase (Gs alpha), when compared with healthy family members. In contrast, there was no significant difference between healthy and affected subjects with regard to the levels of the mRNA coding for the alpha subunit of Gi alpha-2, the main inhibitory G protein of adenylyl cyclase. The results indicate that reduced expression of Gs alpha is a useful genetic marker in some families with AHO, regardless whether patients are affected by PHP-Ia or by pseudo-PHP.

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Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia)

Cited by 13 publications

References 10 publications

Pseudohypoparathyroidism type 1a and insulin resistance in a child

Pseudohypoparathyroidism type 1a and insulin resistance in a child

Intraarticular Heterotopic Ossification as the Initial Manifestation in a Child with Pseudohypoparathyroidism 1a

Endocrine and molecular biological studies in a German family with Albright hereditary osteodystrophy

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