Pseudohypoparathyroidism: Difference between revisions

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Revision as of 12:21, 19 September 2012

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-632-7753

Overview

Pseudohypoparathyroidism is a condition caused by resistance to the parathyroid hormone. Patients have a low serum calcium and high phosphate, but the parathyroid hormone level is appropriately high.

Type 1a pseudohypoparathyroidism has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies.
Type 1b pseudohypoparathyroidism lacks the physical appearance of type 1a, but is biochemically similar.

The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

Diagnosis

Physical Examination

Short stature
Obesity

Laboratory Findings

Hypocalcemia
Hyperphosphatemia
Elevated parathyroid hormone (hyperparathyroidism)

Types

Online Mendelian Inheritance in Man (OMIM) 103580 - Type 1A (closely associated with Albright's hereditary osteodystrophy)
Online Mendelian Inheritance in Man (OMIM) 603233 - Type 1B
Online Mendelian Inheritance in Man (OMIM) 203330 - Type 2

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v t e Endocrine pathology: endocrine diseases (E00-35, 240-259)
Thyroid	Hypothyroidism (Iodine deficiency, Cretinism, Congenital hypothyroidism, Goitre, Myxedema) - Hyperthyroidism (Graves disease, Toxic multinodular goitre, Teratoma with thyroid tissue or Struma ovarii) - Thyroiditis (De Quervain's thyroiditis, Hashimoto's thyroiditis, Riedel's thyroiditis) - Euthyroid sick syndrome
Pancreas	Diabetes mellitus (type 1, type 2, coma, angiopathy, ketoacidosis, nephropathy, neuropathy, retinopathy) - Hypoglycemia - Hyperinsulinism - Zollinger-Ellison syndrome - insulin receptor (Rabson-Mendenhall syndrome)
Parathyroid	Hypoparathyroidism (Pseudohypoparathyroidism) - Hyperparathyroidism (Primary, Secondary, Tertiary)
Pituitary	Hyperpituitarism (Acromegaly, Hyperprolactinaemia, SIADH) - Hypopituitarism (Simmonds' disease / Sheehan's syndrome, Kallmann syndrome, Growth hormone deficiency, Diabetes insipidus) - Adiposogenital dystrophy - Empty sella syndrome - Hypophysitis
Adrenal	Cushing's syndrome (Nelson's syndrome, Pseudo-Cushing's syndrome) - CAH (Lipoid, 3β, 11β, 17α, 21α) - Hyperaldosteronism (Conn syndrome, Bartter syndrome) - Adrenal insufficiency (Addison's disease) - Hypoaldosteronism
Gonads	Ovarian dysfunction (Polycystic ovary syndrome, Premature ovarian failure) - Testicular dysfunction (5-alpha-reductase deficiency) - Testosterone biosynthesis (17-beta-hydroxysteroid dehydrogenase deficiency) - General (Hypogonadism, Delayed puberty, Precocious puberty)
Other	Androgen insensitivity syndrome - Autoimmune polyendocrine syndrome - Carcinoid syndrome - Gigantism - Short stature (Laron syndrome, Psychogenic dwarfism) - Multiple endocrine neoplasia (1, 2) - Progeria - Woodhouse-Sakati syndrome