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]

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]

Abnormal weight gain continued despite a caloric intake of about 65 kcal/kg per day. [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]

Daily activities were restricted due to severe pain. She improved only when calcium supplements were stopped and 1,25-dihydroxyvitamin D (One Alpha 25 ng/kg per day) was started. Analgesia and orthotics were an essential part of management. [abstracts.eurospe.org]

Ectopic ossifications may range from absent to extensive and generate severe pain. Developmental delay is highly variable, even in families with the same mutation. [orpha.net]

Two years later, skin examination revealed subcutaneous nodules and acanthosis nigricans.Investigations. [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]

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]

He also had congenital hypothyroidism, round face, full cheeks, shortness of limbs, mild developmental delay, and muscular hypotonia. [ncbi.nlm.nih.gov]

[…] navigation Jump to search osteochondrodysplasia that has material basis in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded [wikidata.org]

AHO is characterized by short stature, obesity, round face with flat nasal bridge, brachydactyly, subcutaneous ossification and possible / variable developmental delay. [hopkinsmedicine.org]

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]

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]

These symptoms had been present for years and she was only recently unable to walk. [hkmj.org]

Herein, we report a case of of PHP1A with atypical clinical manifestations (oligomenorrhea, subclinical hypothyroidism, and normocalcemia) and explore the underlying genetic cause in this patient. [ncbi.nlm.nih.gov]

Gonadal dysfunction with delayed or incomplete sexual maturation, amenorrhea or oligomenorrhea and/or infertility is very frequent. [orpha.net]

[…] frontalis interna 0004438 Hypertension 0000822 Hypocalcemic tetany 0003472 Hyporeflexia Decreased reflex response Decreased reflexes [ more ] 0001265 Irritability Irritable 0000737 Laryngeal dystonia 0012049 Muscle spasm 0003394 Myoclonic spasms 0003739 Oligomenorrhea [rarediseases.info.nih.gov]

QT interval 0001657 Reduced bone mineral density Low solidness and mass of the bones 0004349 Sensorineural hearing impairment 0000407 Short 3rd metacarpal Shortened 3rd long bone of hand 0010041 Spinal cord compression Pressure on spinal cord 0002176 [rarediseases.info.nih.gov]