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Pseudohypoparathyroidism Type 1A


Presentation

  • Subclinical hypothyroidism was present in 70%, increased parathormone (PTH) in 83%, and hyperphosphatemia in 50%. Only one case presented with hypocalcemia.[ncbi.nlm.nih.gov]
  • It can present with resistance to several hormones, in addition to parathyroid hormone (PTH).[ncbi.nlm.nih.gov]
  • Mild TSH resistance is often present at birth and may be diagnosed through neonatal screening of congenital hypothyroidism (see this term). It is usually asymptomatic.[orpha.net]
  • A girl with type 1a pseudohypoparathyroidism (PHP) presented several hormonal abnormalities. Although she had eluded neonatal thyroid screening, she was diagnosed as having hypothyroidism at the age of 5 months.[ncbi.nlm.nih.gov]
  • 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.[ncbi.nlm.nih.gov]
Short Stature
  • In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome. Hearing loss, both sensorineural and conductive, has been reported in PHP1A.[ncbi.nlm.nih.gov]
  • Our data indicate that GH deficiency is common (69%) in PHP type 1a and may contribute to the obesity and short stature typical of AHO. We propose that GH status be evaluated in all patients with PHP type 1a.[ncbi.nlm.nih.gov]
  • On physical examination, he had short stature, round-shaped face and brachydactly. Laboratory evaluation revealed PTH and TSH resistance. Molecular genetic analysis of the GNAS gene revealed a P115S substitution.[ncbi.nlm.nih.gov]
  • This syndrome is associated with short stature, obesity, brachydactyly, and subcutaneous ossifications.[ncbi.nlm.nih.gov]
  • In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features.[ncbi.nlm.nih.gov]
Fatigue
  • Treatment with recombinant GH could lead to improvements in height in children, as well as other physical (eg, obesity, hyperlipidemia, osteoporosis, reduced renal function) and psychological (fatigue and diminished sense of well-being) parameters in[ncbi.nlm.nih.gov]
  • […] formation of cAMP normal appearance Presentation Symptom symptoms of hypocalcemia paresthesia fingertip, toes, perioral abdominal pain, biliary colic muscle cramps, tetany dyspnea (laryngospasm, bronchospasm) convulsions mental status changes anxiety, fatigue[orthobullets.com]
  • There was a history of general fatigue, poor school performance and tingling in the hands that began 2 months earlier. Physical examination showed truncal obesity, round face but no other phenotypic features of AHO.[elsevier.pt]
Weight Gain
  • Abnormal weight gain continued despite a caloric intake of about 65 kcal/kg per day.[ncbi.nlm.nih.gov]
  • Weight gain during infancy and early childhood was calculated as change in weight standard deviation score (SDS), using the French growth reference values.[ncbi.nlm.nih.gov]
  • The abnormality in energy expenditure and/or energy intake responsible for this weight gain is unknown. OBJECTIVE: The aim of this study was to evaluate energy expenditure in children with PHP-1a compared with obese controls.[ncbi.nlm.nih.gov]
  • The abnormality in energy expenditure and/or energy intake responsible for this weight gain is unknown.Objective: The aim of this study was to evaluate energy expenditure in children with PHP-1a compared with obese controls.Patients:We studied 6 obese[experts.umich.edu]
  • PHP may be connected to other hormone problems, resulting in: Low sex drive Slow sexual development Low energy levels Weight gain Contact your provider if you or your child have any symptoms of a low calcium level or pseudohypoparathyroidism.[medlineplus.gov]
Euthyroid
  • Daily requirement for levothyroxine supplementation was still high (2.3 μg/kg) to achieve euthyroidism. His pubertal development was Tanner stage V and he has no gonadotropin resistance.[ncbi.nlm.nih.gov]
Broad Chest
  • 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.[ncbi.nlm.nih.gov]
Snoring
  • In the combined analysis (n 31), 52% had a history of snoring and 45% had a diagnosis of sleep apnea. Patients were obese with a mean BMI z-score of 2.20 0.59.[ncbi.nlm.nih.gov]
  • He also had history of asthma and night-time snoring and was treated with inhaled therapy as needed. Couple of days prior to the admission, he had cough without fever.[bone-abstracts.org]
Subcutaneous Nodule
  • Two years later, skin examination revealed subcutaneous nodules and acanthosis nigricans.Investigations.[ncbi.nlm.nih.gov]
  • At 3 months of age, hard subcutaneous nodules were observed, and histologic analysis of a biopsied lesion suggested a possible diagnosis of ossified pilomatricoma. At 6 months of age, she was documented to have mild hypothyroidism.[ncbi.nlm.nih.gov]
  • The patient was a 13-year-old female with subcutaneous nodules in arms and abdomen, lifelong short stature and intellectual disability. Both parents (Ecuadorian in origin) were healthy.[analesdepediatria.org]
Hearing Impairment
  • impairment 0000407 Short 3rd metacarpal Shortened 3rd long bone of hand 0010041 Spinal cord compression Pressure on spinal cord 0002176 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 1%-4% of people have these symptoms Elevated calcitonin[rarediseases.info.nih.gov]
Fear
  • […] length of neck 0000470 Thickened calvaria Increased thickness of skull cap Thickened skull cap [ more ] 0002684 5%-29% of people have these symptoms Abdominal symptom 0011458 Abnormal platelet function 0011869 Anxiety Excessive, persistent worry and fear[rarediseases.info.nih.gov]
Round Face
  • He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia.[ncbi.nlm.nih.gov]
  • Based on our results, PHP type 1A should be considered in toddlers presenting with round face, rapid weight gain, subcutaneous ossifications, and subclinical hypothyroidism.[ncbi.nlm.nih.gov]
  • This defect also causes short stature, a round face, and short hand bones, which is referred to as Albright's hereditary osteodystrophy. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org]
  • face, brachydactyly, subcutaneous ossifications, and, in some cases, neurobehavioral deficits [ 1 , 2 ].[link.springer.com]
  • AHO is characterized by short stature, obesity, round face with flat nasal bridge, brachydactyly, subcutaneous ossification and possible / variable developmental delay.[hopkinsmedicine.org]
Short Neck
  • 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.[ncbi.nlm.nih.gov]
  • Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present. There may be cognitive deficits and some patients are considered to be mentally retarded.[disorders.eyes.arizona.edu]
  • The patient had a singular phenotype ( Fig. 1 ) with a rounded face, short neck, and shortening of the first toe in both feet as well as of the fourth metacarpal and metatarsal bones in both hands and feet, respectively.[analesdepediatria.org]
  • neck Short hand bones, especially the bone below the 4th finger Short height Your health care provider will recommend calcium and vitamin D supplements to maintain a proper calcium level.[medlineplus.gov]
  • neck Decreased length of neck 0000470 Thickened calvaria Increased thickness of skull cap Thickened skull cap [ more ] 0002684 5%-29% of people have these symptoms Abdominal symptom 0011458 Abnormal platelet function 0011869 Anxiety Excessive, persistent[rarediseases.info.nih.gov]
Unable to Walk
  • These symptoms had been present for years and she was only recently unable to walk.[hkmj.org]
Responsiveness Decreasing
  • Decreased reflexes [ more ] 0001265 Irritability Irritable 0000737 Laryngeal dystonia 0012049 Muscle spasm 0003394 Myoclonic spasms 0003739 Oligomenorrhea Light or infrequent menstrual periods 0000876 Osteoma cutis 0025027 Paresthesia Pins and needles[rarediseases.info.nih.gov]

Workup

  • Clinical inquiries: what is the best workup for hypocalcemia? J Fam Pract. 2008;57(10):677-9. Kuzel AR, Lodhi MU, Rahim M. Classic and Non-Classic Features in Pseudohypoparathyroidism: Case Study and Brief Literature Review.[revistas.unal.edu.co]
  • Because of her clinical and biochemical presentation we suspected pseudohypoparathyroidism and additional workup confirmed our diagnosis .[omicsonline.org]

Treatment

  • However, it is possible that a subset of these patients may qualify for GH treatment based on another FDA approved indication, and certain patients may qualify for treatment on a research basis in the future.[bioportfolio.com]
  • The skeletal age was not delayed at the age of 5 months in spite of the hypothyroid state, and it advanced following thyroxine and vitamin D treatments.[ncbi.nlm.nih.gov]
  • Management and treatment Treatment is based on maintaining normocalcemia and, when possible, normalizing serum levels of PTH, with an active form of vitamin D (alfacalcidol or calcitriol) and calcium supplementation.[orpha.net]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
  • At 6 years and 4 months of age, treatment with growth hormone was initiated at a dose of 0.3 mg/kg weekly.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis With proper treatment, prognosis is good, but quality of life may be affected by subcutaneous ossifications and the presence of severe short stature and obesity.[orpha.net]

Etiology

  • Etiology In about 70-80% of cases, PHP-Ia is caused by haploinsufficiency due to maternally-inherited heterozygous inactivating mutations in the GNAS gene (20q13).[orpha.net]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications. Arch Endocrinol Metab. 2016;60(6):532-6. . Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L.[revistas.unal.edu.co]

Epidemiology

  • Clinical and biochemical parameters along with epidemiological data were extracted and analyzed.[ncbi.nlm.nih.gov]
  • It opens by addressing in detail the anatomy and physiology of the parathyroids and describing the epidemiology and clinical presentation of hypoparathyroidism.[books.google.com]
  • Summary Epidemiology Prevalence of PHP (1a and 1b) has been estimated at 1/295,000 in a Japanese study. The prevalence of PHP (1a, 1b and pseudopseudohypoparathyroidism (PPHP); see these terms) has been estimated at 1/150,000in Italy.[orpha.net]
  • Pseudohypoparathyroidism - epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2016;84(6):904-11. .[revistas.unal.edu.co]
Sex distribution
Age distribution

Pathophysiology

  • We report a new case with both clinical entities and discuss the potential pathophysiological mechanisms of this association (protein kinase A hypoactivation, parathyroid hormone, hypocalcemia, protein kinase C activation, vitamin D deficiency).[ncbi.nlm.nih.gov]
  • The role of energy intake vs central regulation of energy expenditure in the pathophysiology of obesity remains unclear. OBJECTIVE: The aim of this study was to evaluate resting energy expenditure (REE) in participants with PHP1A.[ncbi.nlm.nih.gov]
  • Brenner/Rector remains the go-to resource for practicing and training nephrologists and internists who wish to master basic science, pathophysiology, and clinical best practices.[books.google.com]

Prevention

  • Screening for sleep apnea in this population may be warranted to prevent adverse health outcomes. 2015 S. Karger AG, Basel.[ncbi.nlm.nih.gov]
  • 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. Levine.[analesdepediatria.org]
  • Fujimura M, Niizuma K, Inoue T, Sato K, Endo H, Shimizu H, et al : Minocycline prevents focal neurologic deterioration due to cerebral hyperperfusion after extracranial-intracranial bypass for moyamoya disease.[jkns.or.kr]
  • Diseases (1 回) ICG (1 回) OCT (1 回) 2016 Aqueous Angiography with Fluorescein and Indocyanine Green in Bovine Eyes. 16 Arrow Hands-Off thermodilution catheter (1 回) Critical Care 救急医学 (1 回) SIAPAC (1 回) TC (1 回) 1998 The "hands-off" catheter and the prevention[allie.dbcls.jp]
  • It is crucial to emphasize the importance of treatment adherence that may prevent further symptoms.[elsevier.pt]

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