Symptoma

Pseudohypoparathyroidism Type 1B

We present a twin boy conceived by ART to parents with no history of subfertility who presented at age 12 with bilateral slipped capital femoral epiphysis and bilateral genu valgum deformity. [ncbi.nlm.nih.gov]

Clinical description PHP1b usually presents in childhood with symptoms of hypocalcemia, including numbness, seizures, tetany, cataracts, and dental problems. [orpha.net]

  • Diastolic Hypertension

    He is currently on oral enalapril because overnight blood pressure monitoring showed diastolic hypertension. An ultrasound scan showed multiple renal calculi. A renal magnetic resonance angiogram and cardiac echocardiogram were normal. [academic.oup.com]

  • Small Hand

    Note some facial features of PHP1a including flattening of nasal bridge, anteverted nares and small hands. [nature.com]

  • Narrow Forehead

    Physical exam showed a narrow forehead, nasal bridge hypoplasia and micropenis. After normalizing vitamin D, PTH remained elevated and PHP1B was therefore considered as the underlying diagnosis. [ncbi.nlm.nih.gov]

  • Cesarean Section

    He was born in Nigeria by emergency cesarean section for fetal distress at 42 wk gestation. His birth weight was 3.7 kg (25th–50th centile). There was a history of perinatal asphyxia as well as hypoglycemia and jaundice in the neonatal period. [academic.oup.com]

  • Abnormal Gait

    We report a 4.8-year-old girl with PHP1b who presented with an abnormal gait, severe skeletal changes and elevated levels of serum PTH (2844 pg/ml), phosphate (7.2 mg/dl) and bone turnover markers. [ncbi.nlm.nih.gov]

  • Focal Seizure

    He had a number of febrile focal seizures from 6 months of age but was not seen by medical practitioners until aged 9 months when he presented with gross obesity (weight 18 kg, 10 sd above mean), hypertension (blood pressure, 210/150 mm Hg), a palpable [academic.oup.com]

Because of her clinical and biochemical presentation we suspected pseudohypoparathyroidism and additional workup confirmed our diagnosis. [omicsonline.org]

[…] in his adolescence, who could no longer be successfully treated by standard vitamin D treatment alone. [ncbi.nlm.nih.gov]

Management and treatment Treatment is based on maintaining normocalcemia and normalizing serum levels of PTH with active vitamin D metabolites (alfacalcidol or calcitriol) and calcium supplementation. [orpha.net]

Prognosis With treatment the prognosis is good and life expectancy is predicted to be comparable with the normal population, provided that endocrine disorders are correctly treated. [orpha.net]

The diagnosis of PHP-1B is challenging but the overall prognosis is excellent. * Data courtesy of Altmetric.com [assets2.scicombinator.com]

The diagnosis of PHP-1B is challenging but the overall prognosis is excellent. Read this article (multiple options) Comments Related Papers [readbyqxmd.com]

Etiology The majority of cases of PHP1b are sporadic, but an autosomal dominant transmission has also been described. [orpha.net]

[…] no apparent clinical symptoms and may show only a mild PTH elevation as evidence of PTH resistance. 2 However, some patients with this disorder may present with symptomatic hypocalcemia leading to abnormal movements suggestive of a primary neurologic etiology [pediatrics.aappublications.org]

Summary Epidemiology The prevalence is unknown. The estimated prevalence of PHP (1a, 1b and PPHP) in Italy is 1/150,000. [orpha.net]

It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism. [books.google.es]

Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun. 101 (6):2284-99. [Medline]. [Full Text]. Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. [emedicine.medscape.com]

The underlying pathophysiology in PHP is a defect at the PTH-receptor (genetic mutation in the alpha subunit of the receptor G-protein causing altered messenger action), leading to end organ resistance to the action of PTH. [indianpediatrics.net]

Molecular and Systemic Pathophysiology PTH is a main regulator of renal phosphate reabsorption and 1 alpha hydroxylase activity in the renal proximal tubule. [link.springer.com]

Pathophysiology Genetics A heterozygous mutation of the GNAS gene that encodes the G stimulatory α subunit (Gsα) of guanine nucleotide-binding protein leads to a loss of expression or function of the Gsα, which impairs the transmission of stimulatory [emedicine.medscape.com]

The pathophysiology of type 1b is caused by paternal disomy of chromosome 20q and subsequent GNAS1 methylation. [7], [8] The loss of the maternal GNAS1 gene results in PTH resistance in the proximal renal tubules, which leads to hypocalcemia and hyperphosphatemia [ijoonline.com]

On follow up, serum calcium levels and urinary calcium/creatinine were monitored to achieve good calcemic control and to prevent calciuria. TFT were monitored six monthly. [indianpediatrics.net]

The aim of this meta-analysis was to assess the efficacy of routine calcium supplementation with or without vitamin D in preventing hypocalcaemia post-thyroidectomy. [medworm.com]

The goals of treatment are to correct the calcium deficiency and prevent complications. Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). [checkorphan.org]

Early recognition and aggressive management of the predisposing endocrine disorder is crucial to prevent treatment failure and associated morbidity. [ijoonline.com]

Even when the calcium level is normal, administration of calcitriol and calcium is recommended to suppress the PTH production and prevent osseous lesions secondary to elevated blood PTH. 6 References [1] M.A. [analesdepediatria.org]