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Pseudohypoparathyroidism Type 1B


Presentation

  • 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]
  • The girl in this case presented at the age of 6 months with morbid obesity (body mass index, 7.5 SDS) and a large umbilical hernia. Genetic analysis showed BWS (hypomethylation of the KCNQ1OT1 gene).[ncbi.nlm.nih.gov]
  • We present a patient conceived by ART, who presented at age 4 years with delayed neurocognitive development and persistently increased creatine kinase (CK).[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]
Hyperactivity
  • Is there an increased risk for drug treated attention deficit/hyperactivity disorder in children born after in vitro fertilization? Eur J Paediatr Neurol 2011;15:247–53. Crossref Web of Science PubMed Google Scholar 20. Owen CM, Segars JH Jr.[degruyter.com]

Workup

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

Treatment

  • […] in his adolescence, who could no longer be successfully treated by standard vitamin D treatment alone.[ncbi.nlm.nih.gov]
  • Traditional treatment with calcium and calcitriol failed to suppress PTH secretion, which was still elevated at 2877 pg/ml after 14 months of therapy, nor did it correct the other clinical, biochemical and radiographic abnormalities.[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

  • 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

  • Etiology The majority of cases of PHP1b are sporadic, but an autosomal dominant transmission has also been described.[orpha.net]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]

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