Nutrition recommendations for patients with pseudohypoparathyroidism.

Pseudohypoparathyroidism (PHP) is a spectrum of diseases characterized by insensitivity of target tissues to the action of parathyroid hormone and, consequently, by the presence of hyperphosphatemia and hypocalcaemia of varying severity. Early-onset obesity is a feature of PHP type 1A. This article discusses the need to establish uniform criteria to guide the nutritional management of patients with PHP. A decrease in energy expenditure calls for an adjustment of the energy content of the diet. Reducing the intake of foods rich in inorganic phosphorus helps to manage hyperphosphataemia. Targeted nutrition should be part of the treatment plan of children and adolescents with PHP, since it contributes to modulating the calcium and phosphorus metabolism imbalances characteristic of these patients.

[Clinical analysis of 15 cases of pseudohypoparathyroidism].

OBJECTIVE: To analyze the clinical characteristics, diagnosis and treatment of pseudohypoparathyroidism (PHP). METHODS: The clinical data of 15 patients with pseudohypoparathyroidism (including 9 male and 6 female patients) admitted in our hospital between January, 1990 and July, 2011 were reviewed. RESULTS: The disease course of the patients ranged from 3 days to 21 years, and such symptoms of tetany and fatigue were found in all the patients. Most of the patients had a history of seizures. Laboratory tests suggested commonly low serum calcium, hyperphosphatemia, and parathyroid hormone (PTH) elevation. Head CT indicated multiple intracranial calcifications in 9 cases, and abnormal thyroid function was found in 4 cases. No specific treatment was available for this disease, and life-long calcium and vitamin D supplementation was advised to prevent acute attacks and disease progression. CONCLUSION: PHP is a rare genetic disease with a high rate of misdiagnosis in initial diagnosis. For repeated tetany and epileptic attacks and children with congenital developmental defects, examinations of blood calcium, phosphorus, and PTH and brain CT should be ordered as soon as possible. Long-term calcium and vitamin D supplementation is suggested for the treatment, and the presence of concomitant thyroid dysfunction or hypogonadism necessitates corresponding treatments.

Transient pseudohypoparathyroidism as a cause of late-onset hypocalcemia in neonates and infants.

BACKGROUND/PURPOSE: Transient pseudohypoparathyroidism is a rare cause of late-onset hypocalcemia in neonates and infants. The purpose of this study was to investigate the clinical presentation and natural course of transient pseudohypoparathyroidism in neonates and infants. METHODS: From 1995 to 2006, 21 patients under 3 months of age were admitted to our department because of late-onset neonatal hypocalcemia. Among these, five were noted to have transient hypocalcemia, hyperphosphatemia and elevated serum parathyroid hormone levels. Their clinical data, biochemical findings and natural course were thoroughly analyzed. RESULTS: All five patients were boys with increased neuromuscular irritability as their initial clinical manifestation. Initial biochemical data showed calcium 1.5 +/- 0.16 mmol/L, phosphorus 9.6 +/- 1.5 mg/dL, intact parathyroid hormone 182 +/- 93 pg/mL and tubular reabsorption of phosphorus 94.8 +/- 3.7%. Two of the patients had magnesium deficiency. After reduction of phosphorus intake and supplementation with calcium and/or magnesium as indicated, the biochemical derangements resolved in 28 +/- 3 days. CONCLUSION: Neuromuscular irritability is usually the initial clinical presentation of transient pseudohypoparathyroidism. Aside from delayed renal maturation, pseudohypoparathyroidism is also caused by magnesium deficiency. Such a disturbance usually resolves before 3 months of age.

[Pseudohypoparathyroidism and the concept of hormonal resistance. Diagnosis, classification and therapy]. / Les pseudohypoparathyroïdies et le concept de résistance hormonale. Diagnostic, classification et traitement.

CLINICAL AND BIOLOGICAL FEATURES: Pseudohypoparathyroidism is a heterogenous group of conditions with variable clinical and biological features and a common resistance to parathormone (PTH) leading to hypocalcemia associated with high levels of PTH. The classification of these conditions depends on the expression of Albright's osteodystrophy and response to exogenous parathormone: urine phosphorus and cyclic AMP excretion. TYPE IA: The characteristic feature is Albright's osteodystrophy associated with a totally negative response to exogenous PTH. Defective protein G is the cause. Pseudopseudohypoparathyroidism is defined by Albright's osteodystrophy without resistance to PTH. This condition occurs in families with type Ia pseudohypoparathyroidism. It is also related to a defect in protein G. TYPE IB: Type Ib corresponds to PTH resistance alone, without Albright's osteodystrophy. This condition is apparently secondary to anomalous regulation of the gene coding the PTH receptor. TYPE II: Type II is defined by the inconstant presence of Albright's osteodystrophy and a dissociated response to PTH: urinary phosphorus does not respond to PTH (hormone resistance) but urine cyclic AMP increases in response to PTH suggesting anomalous signal transduction downstream from adenyl cyclase. TREATMENT: In all types, treatment is based on combining calcium therapy and vitamin D supplementation under rigorously controlled conditions.