Pseudopseudohypoparathyroidism

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Pseudopseudohypoparathyroidism
Classification and external resources
ICD-9	275.49
OMIM	612463
DiseasesDB	29783
MeSH	D011556

Pseudopseudohypoparathyroidism (pseudoPHP) is an inherited disorder, named for its similarity to pseudohypoparathyroidism in presentation. The term pseudopseudohypoparathyroidism is used to describe a condition where the individual has the phenotypic appearance of pseudohypoparathyroidism type 1a, but is biochemically normal.

It is sometimes considered a variant of Albright hereditary osteodystrophy.^[1]

It was characterized in 1952 by Fuller Albright as "pseudo-pseudohypoparathyroidism" (with hyphen).^[2]^[3]

Presentation

Pseudopseudohypoparathyroidism can be best understood by comparing it to other conditions:

Condition		Appearance	PTH levels	Calcitriol	Calcium	Phosphates	Imprinting
Hypoparathyroidism		Normal	Low	Low	Low	High	Not applicable
Pseudohypoparathyroidism	Type 1A	Skeletal defects	High	Low	Low	High	Gene defect from mother (GNAS1)
	Type 1B	Normal	High	Low	Low	High	Gene defect from mother (GNAS1 and STX16)
	Type 2	Normal	High	Low	Low	High	?
Pseudopseudohypoparathyroidism		Skeletal defects	Normal	Normal	Normal^[4]	Normal	Gene defect from father

Hormone resistance is not present in pseudopseudohypoparathyroidism.^[5] Short stature may be present.^[6] Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism.^[7] Osteoma cutis may be present.^[8]

Inheritance

A mother who has inherited pseudopseudohypoparathyroidism from her father may in turn pass along pseudohypoparathyroidism 1A to her children as the imprinting pattern on the inherited paternal chromosome will be changed to the maternal pattern in the mother's ovum during meiosis.

Pseudopseudohypoparathyroidism and pseudohypoparathyroidism both involve the same GNAS gene,^[9] but pseudopseudohypoparathyroidism has normal calcium homeostasis because of the normal maternal allele in the kidney.^[10]

Linguistic significance

At 30 letters, the English name of the disorder is one of the candidates for being the longest word in English.^[11]

References

↑ Solomon SS, Kerlan RM, King LE, Jones GM, Hashimoto K (January 1975). "Pseudopseudohypoparathyroidism with fibrous dysplasia". Arch Dermatol 111 (1): 90–3. doi:10.1001/archderm.111.1.90. PMID 1119829.
↑ Philip R. Beales; I. Sadaf Farooqi; Stephen O'Rahilly (12 September 2008). The genetics of obesity syndromes. Oxford University Press US. pp. 91–. ISBN 978-0-19-530016-1. Retrieved 30 October 2010.
↑ ALBRIGHT F, FORBES AP, HENNEMAN PH (1952). "Pseudo-pseudohypoparathyroidism". Trans. Assoc. Am. Physicians 65: 337–50. PMID 13005676.
↑ Shahid Hussain; Sharif Aaron Latif; Adrian Hall (1 July 2010). Rapid Review of Radiology. Manson Publishing. pp. 262–. ISBN 978-1-84076-120-7. Retrieved 30 October 2010.
↑ Mouallem M, Shaharabany M, Weintrob N, et al. (February 2008). "Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha". Clin. Endocrinol. (Oxf) 68 (2): 233–9. doi:10.1111/j.1365-2265.2007.03025.x. PMID 17803690.
↑ Riggs JE (July 1997). "Military service and pseudopseudohypoparathyroidism: recognizing red flags for rare medical conditions". Mil Med 162 (7): 510–2. PMID 9232985.
↑ Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL (March 2007). "Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity". J. Clin. Endocrinol. Metab. 92 (3): 1073–9. doi:10.1210/jc.2006-1497. PMID 17164301.
↑ Jeong KH, Lew BL, Sim WY (May 2009). "Osteoma cutis as the presenting feature of albright hereditary osteodystrophy associated with pseudopseudohypoparathyroidism". Ann Dermatol 21 (2): 154–8. doi:10.5021/ad.2009.21.2.154. PMC 2861203. PMID 20523775.
↑ Lebrun M, Richard N, Abeguilé G, et al. (June 2010). "Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans". J. Clin. Endocrinol. Metab. 95 (6): 3028–38. doi:10.1210/jc.2009-1451. PMID 20427508.
↑ David Terris; Christine G. Gourin (15 November 2008). Thyroid and Parathyroid Diseases: Medical and Surgical Management. Thieme. pp. 193–. ISBN 978-1-58890-518-5. Retrieved 30 October 2010.
↑ "What is the longest English word?". AskOxford. Oxford Dictionaries Online.

External links

Look up pseudopseudohypoparathyroidism in Wiktionary, the free dictionary.

Endocrine pathology: endocrine diseases (E00–E35, 240–259)

Pancreas/
glucose
metabolism

Hypofunction	Diabetes mellitus types: type 1 type 2 MODY 1 2 3 4 5 6 complications coma angiopathy ketoacidosis nephropathy neuropathy retinopathy cardiomyopathy insulin receptor (Rabson–Mendenhall syndrome) Insulin resistance

Hyperfunction	Hypoglycemia beta cell (Hyperinsulinism) G cell (Zollinger–Ellison syndrome)

Hypothalamic/
pituitary axes

Hypothalamus

gonadotropin
- Kallmann syndrome
- Adiposogenital dystrophy
CRH (Tertiary adrenal insufficiency)
vasopressin (Neurogenic diabetes insipidus)
general (Hypothalamic hamartoma)

Pituitary

Hyperpituitarism	anterior Acromegaly Hyperprolactinaemia Pituitary ACTH hypersecretion posterior (SIADH) general (Nelson's syndrome)

Hypopituitarism	anterior Kallmann syndrome Growth hormone deficiency ACTH deficiency/Secondary adrenal insufficiency GnRH insensitivity FSH insensitivity LH/hCG insensitivity posterior (Neurogenic diabetes insipidus) general Empty sella syndrome Pituitary apoplexy Sheehan's syndrome Lymphocytic hypophysitis

Thyroid

Hypothyroidism	Iodine deficiency Cretinism Congenital hypothyroidism Myxedema Euthyroid sick syndrome

Hyperthyroidism	Hyperthyroxinemia Thyroid hormone resistance Familial dysalbuminemic hyperthyroxinemia Hashitoxicosis Thyrotoxicosis factitia Graves' disease

Thyroiditis	Acute infectious Subacute De Quervain's Subacute lymphocytic Autoimmune/chronic Hashimoto's Postpartum Riedel's

Goitre	Endemic goitre Toxic nodular goitre Toxic multinodular goiter Thyroid nodule

Parathyroid

Hypoparathyroidism	Hypoparathyroidism Pseudohypoparathyroidism Pseudopseudohypoparathyroidism

Hyperparathyroidism	Primary Secondary Tertiary Osteitis fibrosa cystica

Adrenal

Hyperfunction	aldosterone: Hyperaldosteronism/Primary aldosteronism Conn syndrome Bartter syndrome Glucocorticoid remediable aldosteronism AME Liddle's syndrome 17α CAH cortisol: Cushing's syndrome (Pseudo-Cushing's syndrome) sex hormones: 21α CAH 11β CAH

Hypofunction/ Adrenal insufficiency (Addison's, WF)	aldosterone: Hypoaldosteronism 21α CAH 11β CAH cortisol: CAH Lipoid 3β 11β 17α 21α sex hormones: 17α CAH

Gonads

testicular: enzymatic
- 5α-reductase deficiency
- 17β-hydroxysteroid dehydrogenase deficiency
- aromatase excess syndrome)
Androgen receptor (Androgen insensitivity syndrome

general: Hypogonadism (Delayed puberty)
Hypergonadism
- Precocious puberty
Hypoandrogenism
Hypoestrogenism
Hyperandrogenism
Hyperestrogenism

Height

Multiple

Autoimmune polyendocrine syndrome multiple
- APS1
- APS2
Carcinoid syndrome
Multiple endocrine neoplasia
- 1
- 2A
- 2B
Progeria
Woodhouse-Sakati syndrome

M: END

anat/phys/devp/horm

noco (d)/cong/tumr, sysi/epon

proc, drug (A10/H1/H2/H3/H5)

Inborn error of metal metabolism (E83, 275)

Transition metal

high:	Primary iron overload disorder: Hemochromatosis/HFE1 Juvenile/HFE2 HFE3 African iron overload/HFE4 Aceruloplasminemia Atransferrinemia Hemosiderosis

deficiency:	Iron deficiency

high:	Copper toxicity Wilson's disease

deficiency:	Copper deficiency Menkes disease/Occipital horn syndrome

high:	Zinc toxicity

deficiency:	Acrodermatitis enteropathica

Electrolyte

Na⁺ and K⁺

see Template:Water-electrolyte imbalance and acid-base imbalance

PO₄³⁻

high:	Hyperphosphatemia

deficiency:	Hypophosphatemia alkaline phosphatase Hypophosphatasia

Mg²⁺

high:	Hypermagnesemia

deficiency:	Hypomagnesemia

Ca²⁺

high:	Hypercalcaemia Milk-alkali syndrome (Burnett's) Calcinosis (Calciphylaxis, Calcinosis cutis) Calcification (Metastatic calcification, Dystrophic calcification) Familial hypocalciuric hypercalcemia

deficiency:	Hypocalcaemia Osteomalacia Pseudohypoparathyroidism (Albright's hereditary osteodystrophy) Pseudopseudohypoparathyroidism

M: NUT

cof, enz, met

noco, nuvi, sysi/epon, met

drug (A8/11/12)

Non-Mendelian inheritance: genomic imprinting

Chromosome 15

Angelman syndrome ♀ / Prader-Willi syndrome ♂

Chromosome 11

Beckwith–Wiedemann syndrome ♀ / Silver–Russell syndrome ♂

Myoclonic dystonia

Chromosome 20

Pseudohypoparathyroidism ♀ / Pseudopseudohypoparathyroidism ♂

Chromosome 6

Transient neonatal diabetes mellitus

Deficiencies of intracellular signaling peptides and proteins

GTP-binding protein regulators

GTPase-activating protein	Neurofibromatosis type I Watson syndrome Tuberous sclerosis

Guanine nucleotide exchange factor	Marinesco–Sjögren syndrome Aarskog–Scott syndrome Juvenile primary lateral sclerosis X-Linked mental retardation 1

G protein

Heterotrimeic	cAMP/GNAS1: Pseudopseudohypoparathyroidism Progressive osseous heteroplasia Pseudohypoparathyroidism Albright's hereditary osteodystrophy McCune–Albright syndrome CGL 2

Monomeric	RAS: HRAS Costello syndrome KRAS Noonan syndrome 3 KRAS Cardiofaciocutaneous syndrome RAB: RAB7 Charcot–Marie–Tooth disease RAB23 Carpenter syndrome RAB27 Griscelli syndrome type 2 RHO: RAC2 Neutrophil immunodeficiency syndrome ARF: SAR1B Chylomicron retention disease ARL13B Joubert syndrome 8 ARL6 Bardet–Biedl syndrome 3

MAP kinase

Cardiofaciocutaneous syndrome

Other kinase/phosphatase

Tyrosine kinase	BTK X-linked agammaglobulinemia ZAP70 ZAP70 deficiency

Serine/threonine kinase	RPS6KA3 Coffin-Lowry syndrome CHEK2 Li-Fraumeni syndrome 2 IKBKG Incontinentia pigmenti STK11 Peutz–Jeghers syndrome DMPK Myotonic dystrophy 1 ATR Seckel syndrome 1 GRK1 Oguchi disease 2 WNK4/WNK1 Pseudohypoaldosteronism 2

Tyrosine phosphatase	PTEN Bannayan–Riley–Ruvalcaba syndrome Lhermitte–Duclos disease Cowden syndrome Proteus-like syndrome MTM1 X-linked myotubular myopathy PTPN11 Noonan syndrome 1 LEOPARD syndrome Metachondromatosis

Signal transducing adaptor proteins

Other

NF2
- Neurofibromatosis type II
NOTCH3
- CADASIL
PRKAR1A
- Carney complex
PRKAG2
- Wolff–Parkinson–White syndrome
PRKCSH
- PRKCSH Polycystic liver disease
XIAP
- XIAP2

See also intracellular signaling peptides and proteins

B structural
- perx
- skel
- cili
- mito
- nucl
- sclr
DNA/RNA/protein synthesis
- drep
- trfc
- tscr
- tltn
membrane
- icha
- slcr
- atpa
- abct
- othr
transduction
- iter
- csrc
- itra
trfk

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