Biomaterial Database

Pseudohypoparathyroidism with diabetes mellitus and hypothyroidism. 2012

Bedangshu Saikia, and Sunaina Arora, and Jacob M Puliyel

Department of Pediatrics, St Stephens Hospital, Tis Hazari, Delhi, India. bedangshu@gmail.com

We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels. PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is known to utilize the G protein pathway. She developed T 1 diabetes mellitus (T1DM) while under follow-up. This is arguably the first time T1DM has been reported associated with PHP.

UI	MeSH Term	Description	Entries
D006996	Hypocalcemia	Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)	Hypocalcemias
D007037	Hypothyroidism	A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA. It may be primary or secondary due to other pituitary disease, or hypothalamic dysfunction.	Central Hypothyroidism,Primary Hypothyroidism,Secondary Hypothyroidism,TSH Deficiency,Thyroid-Stimulating Hormone Deficiency,Central Hypothyroidisms,Deficiency, TSH,Deficiency, Thyroid-Stimulating Hormone,Hormone Deficiency, Thyroid-Stimulating,Hypothyroidism, Central,Hypothyroidism, Primary,Hypothyroidism, Secondary,Hypothyroidisms,Primary Hypothyroidisms,Secondary Hypothyroidisms,TSH Deficiencies,Thyroid Stimulating Hormone Deficiency,Thyroid-Stimulating Hormone Deficiencies
D011547	Pseudohypoparathyroidism	A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.	Albright Hereditary Osteodystrophy,PHPIa,Albright Hereditary Osteodystrophy with Multiple Hormone Resistance,PHD Ib,PHD1b,PHP Ia,Pseudohypoparathyroidism Type 1B,Pseudohypoparathyroidism, Type Ia,Pseudohypoparathyroidism, Type Ib,Hereditary Osteodystrophy, Albright,Osteodystrophy, Albright Hereditary,Pseudohypoparathyroidism Type 1Bs,Pseudohypoparathyroidisms,Pseudohypoparathyroidisms, Type Ia,Pseudohypoparathyroidisms, Type Ib,Type Ia Pseudohypoparathyroidism,Type Ia Pseudohypoparathyroidisms,Type Ib Pseudohypoparathyroidism,Type Ib Pseudohypoparathyroidisms
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D048909	Diabetes Complications	Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE.	Complications of Diabetes Mellitus,Diabetes-Related Complications,Diabetic Complications,Diabetes Complication,Diabetes Mellitus Complication,Diabetes Mellitus Complications,Diabetes Related Complications,Diabetes-Related Complication,Diabetic Complication