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Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone.^[1] Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is actually appropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G Proteins (in particular, Gs alpha subunit). The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140000.

Types

Types include:

Type	Description	OMIM	Gene
Type 1a	Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a rounded facies. It is most likely an autosomal dominant disorder.^[2] It is also associated with thyroid stimulating hormone resistance.^[3]	103580	GNAS1
Type 1b	Lacks the physical appearance of type 1a, but is biochemically similar.^[4] It is associated with a methylation defect.^[5]^[6]	603233	GNAS1, STX16
Type 2	Also lacks the physical appearance of type 1a.^[7] Since the genetic defect in type 2 is further down the signalling pathway than in type 1, there is a normal cAMP response to PTH stimulation despite the inherent abnormality in calcium regulation.	203330	?

While biochemically similar, type 1 and 2 disease may be distinguished by the differing urinary excretion of cyclic AMP in response to exogenous PTH.

Some sources also refer to a "type 1c".^[8]

Related conditions

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

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^[9]	Normal	gene defect from father

Presentation and differential

Patients may present with features of hypocalcaemia including carpo-pedal muscular spasms, cramping, tetany, and if the calcium deficit is severe, generalized seizures. IQ is typically mildly depressed or unaffected. Additional characteristics include short stature, obesity, developmental delay, and calcification of the basal ganglia in the deep white matter of the brain.

Type 1a Pseudohypoparathyroidism is clinically manifest by bone resorption with blunting of the fourth and fifth knuckles of the hand, most notable when the dorsum of the hand is viewed in closed fist position. This presentation is known as 'knuckle knuckle dimple dimple' sign (Archibald's Sign). This is as opposed to Turner syndrome which is characterized by blunting of only the fourth knuckle, and Down's syndrome, which is associated with a hypoplastic middle phalanx.

Biochemical Findings

hypocalcemia
hyperphosphatemia
elevated parathyroid hormone (hyperparathyroidism)
Supressed calcitriol levels ^[10]

References

^ Bastepe M (2008). "The GNAS locus and pseudohypoparathyroidism". Adv. Exp. Med. Biol. 626: 27–40. doi:10.1007/978-0-387-77576-0_3. PMID 18372789.
^ Online 'Mendelian Inheritance in Man' (OMIM) 103580
^ de Nanclares GP, Fernández-Rebollo E, Santin I et al. (June 2007). "Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy". J. Clin. Endocrinol. Metab. 92 (6): 2370–3. doi:10.1210/jc.2006-2287. PMID 17405843.
^ Online 'Mendelian Inheritance in Man' (OMIM) 603233
^ Laspa E, Bastepe M, Jüppner H, Tsatsoulis A (December 2004). "Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance". J. Clin. Endocrinol. Metab. 89 (12): 5942–7. doi:10.1210/jc.2004-0249. PMID 15579741.
^ Fröhlich LF, Bastepe M, Ozturk D, Abu-Zahra H, Jüppner H (June 2007). "Lack of Gnas epigenetic changes and pseudohypoparathyroidism type Ib in mice with targeted disruption of syntaxin-16". Endocrinology 148 (6): 2925–35. doi:10.1210/en.2006-1298. PMID 17317779.
^ Online 'Mendelian Inheritance in Man' (OMIM) 203330
^ Aldred MA (May 2006). "Genetics of pseudohypoparathyroidism types Ia and Ic". J. Pediatr. Endocrinol. Metab. 19 (Suppl 2): 635–40. PMID 16789628.
^ 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.
^ Levine, Michael. "Pseudohypoparathyroidism: A Variation on the Theme of Hypoparathyroidism".

UpToDate Contents

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1. 成人における低カルシウム血症の原因 etiology of hypocalcemia in adults
2. 幼児および小児における低カルシウム血症の病因 etiology of hypocalcemia in infants and children
3. 副甲状腺機能低下症 hypoparathyroidism
4. 低カルシウム血症の治療 treatment of hypocalcemia
5. 低カルシウム血症の臨床症状 clinical manifestations of hypocalcemia

English Journal

Pseudohypoparathyroidism with Hashimoto's thyroiditis and Turner syndrome: a case report.

Zeng WH1, Xu JJ, Jia MY, Ren YZ.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.Gynecol Endocrinol.2014 Jun 10:1-3. [Epub ahead of print]
Abstract Objective: To report the case of an individual with PHP, Turner syndrome and Hashimoto's thyroiditis. Case: A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature. Radiography indic
PMID 24915162

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.

Tam VH1, Chen SP2, Mak CM2, Fung LM1, Lee CY3, Chan AY2.
Hong Kong medical journal = Xianggang yi xue za zhi / Hong Kong Academy of Medicine.Hong Kong Med J.2014 Jun;20(3):258-60. doi: 10.12809/hkmj134025.
Pseudohypoparathyroidism is a rare genetic disorder characterised by end-organ resistance to parathyroid hormone due to a defect of the guanine nucleotide-binding protein alpha that simulates activity of the polypeptide 1 (GNAS) gene. Patients with type 1a pseudohypoparathyroidism display different
PMID 24914079

Gradual development of brachydactyly in pseudohypoparathyroidism.

Virágh K1, Tőke J, Sallai A, Jakab Z, Rácz K, Tóth M.
The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2014 Jun;99(6):1945-6. doi: 10.1210/jc.2014-1674. Epub 2014 Mar 31.
PMID 24684469

Japanese Journal

Pseudohypoparathyroidism Type II in a Woman with a History of Thyroid Surgery

Murakami Takaaki,Nambu Takuo,Morimoto Yuki,Matsuda Yuki,Matsuo Koji,Yonemitsu Shin,Muro Seiji,Oki Shogo
Internal Medicine 53(7), 743-747, 2014
… We herein describe the case of a woman with pseudohypoparathyroidism (PHP) type II. …
NAID 130003392748

副甲状腺機能低下症および偽性副甲状腺機能低下症 (特集知っておきたい先天性・遺伝性内分泌疾患)

難波範行
内分泌・糖尿病・代謝内科 37(4), 373-379, 2013-10
NAID 40019847614

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification

NAGASAKI Keisuke,TSUCHIYA Shuichi,SAITOH Akihiko,OGATA Tsutomu,FUKAMI Maki
Endocrine journal 60(2), 231-236, 2013-02-01
NAID 10031156746

Related Pictures

★リンクテーブル★

リンク元	「偽性副甲状腺機能低下症」「PHP」
拡張検索	「pseudo-pseudohypoparathyroidism」「pseudopseudohypoparathyroidism」

「偽性副甲状腺機能低下症」

Pseudohypoparathyroidism
Classification and external resources
Specialty	Endocrinology
ICD-10	E20.1
ICD-9	275.49
OMIM	103580 603233 203330
DiseasesDB	10835 10851
MedlinePlus	000364
eMedicine	med/1940
MeSH	D011547