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{{Pseudohypoparathyroidism}}
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==Overview==
Patients with pseudohypoparathyroidism type Ia have an increased rate of other [[endocrine]] abnormalities (such as [[hypothyroidism (patient information)|hypothyroidism]] and [[hypogonadism (patient information)|hypogonadism]]). Complications of [[hypocalcemia]] associated with pseudohypoparathyroidism may include [[seizures]] and other [[endocrine]] problems, leading to [[Decreased libido|decreased sexual drive]] and [[Delayed puberty|delayed sexual development]], [[fatigue]], and increased weight.


{{CMG}}
==Overview==
==Natural History==
==Natural History==
*If left untreated, patients with pseudohypoparathyroidism type1a, type 1c and pseudopseudohypoparathyroidism present by the second decade of life with characteristic physical features of [[Albright's hereditary osteodystrophy]] like:
**Subcutaneous ossifications
**Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]]
**Round face
**[[Obesity]]
**Frontal bossing
**Dental [[hypoplasia]]
*If left untreated, pseudohypoparathyroidism type 1b patients at an increased risk of developing hyperparathyroidism and hyperparathyroid bone disease as a result of long-term elevation in parathyroid hormone.
==Complications==
==Complications==
Patients with type Ia pseudohypoparathyroidism have an increased rate of other endocrine abnormalities (such as [[hypothyroidism (patient information)|hypothyroidism]] and [[hypogonadism (patient information)|hypogonadism]]).
Complications that can develop as a result of pseudohypoparathyroidism are:<ref name="pmid18663313">{{cite journal |vauthors=Shalitin S, Davidovits M, Lazar L, Weintrob N |title=Clinical heterogeneity of pseudohypoparathyroidism: from hyper- to hypocalcemia |journal=Horm. Res. |volume=70 |issue=3 |pages=137–44 |year=2008 |pmid=18663313 |doi=10.1159/000137658 |url=}}</ref><ref name="pmid20011056">{{cite journal |vauthors=Adachi M, Muroya K, Asakura Y, Kondoh Y, Ishihara J, Hasegawa T |title=Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a |journal=Int J Endocrinol |volume=2009 |issue= |pages=931057 |year=2009 |pmid=20011056 |pmc=2778176 |doi=10.1155/2009/931057 |url=}}</ref><ref name="pmid22736772">{{cite journal |vauthors=Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS |title=Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B |journal=J. Clin. Endocrinol. Metab. |volume=97 |issue=9 |pages=3025–30 |year=2012 |pmid=22736772 |pmc=3431579 |doi=10.1210/jc.2012-1655 |url=}}</ref><ref name="pmid18805917">{{cite journal |vauthors=Balavoine AS, Ladsous M, Velayoudom FL, Vlaeminck V, Cardot-Bauters C, d'Herbomez M, Wemeau JL |title=Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH |journal=Eur. J. Endocrinol. |volume=159 |issue=4 |pages=431–7 |year=2008 |pmid=18805917 |doi=10.1530/EJE-08-0111 |url=}}</ref>
*[[Seizures]] (children)
*[[Hypothyroidism]] due to associated resistance to [[thyrotropin]]
*[[Gonadotropin]]
*[[Growth hormone releasing hormone]](GHRH) resistance
*Patients may develop [[hypocalcemia]] resulting in:
**[[Paresthesias]]
** Muscular cramping
**[[Tetany]]
**[[Carpopedal spasm]] 
*Patients with pseudohypoparathyroidism type Ia have an increased rate of other endocrine abnormalities (such as [[hypothyroidism (patient information)|hypothyroidism]] and [[hypogonadism (patient information)|hypogonadism]])
 
*Complications of [[hypocalcemia]] associated with pseudohypoparathyroidism may include:
**[[Seizures]]
**Lowered sexual drive
**Delayed sexual development
**Lowered energy levels
**Increased weight
*Subcutaneous [[calcification]] in [[neonates]]
 
*Reproductive dysfunction is seen in patients with pseudohypoparathyroidism 1a
**Women may experience:
***Delayed [[puberty]]
***[[Oligomenorrhea]]
***[[Infertility]]
**In men decreased [[fertility]] may present with:
***Maturation arrest of [[testes]]
***[[Cryptorchidism]]
 
*Pseudohypoparathyroidism type 1b patients are at risk of developing tertiary [[hyperparathyroidism]] and [[hyperparathyroid]] bone disease.
 
*[[Osteopenia]] and [[rickets]] in peudohypoparathyroidism type 1a  are associated with variable [[osteoclast]] responsiveness to [[parathyroid]] hormone.


Complications of [[hypocalcemia]] associated with pseudohypoparathyroidism may include [[seizures]] and other endocrine problems, leading to lowered sexual drive and lowered sexual development, lowered energy levels, and increased weight.
==Prognosis==
==Prognosis==
Low blood calcium in pseudohypoparathyroidism is usually milder than in other forms of [[hypoparathyroidism]].
* In few cases of pseudohypoparathyroidism, [[calcium]] [[homeostasis]] adapts to [[parathyroid]] hormone resistance resulting in resolution of [[hypocalcemia]].
* Patients who do not adapt to [[parathyroid hormone]] resistance are managed with lifelong [[calcium]] supplementation.
* Long term [[levothyroxine]] is used in patients with associated [[Hypothyroidism|hypothyroidism]].
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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Latest revision as of 19:34, 20 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Patients with pseudohypoparathyroidism type Ia have an increased rate of other endocrine abnormalities (such as hypothyroidism and hypogonadism). Complications of hypocalcemia associated with pseudohypoparathyroidism may include seizures and other endocrine problems, leading to decreased sexual drive and delayed sexual development, fatigue, and increased weight.

Natural History

  • If left untreated, patients with pseudohypoparathyroidism type1a, type 1c and pseudopseudohypoparathyroidism present by the second decade of life with characteristic physical features of Albright's hereditary osteodystrophy like:
  • If left untreated, pseudohypoparathyroidism type 1b patients at an increased risk of developing hyperparathyroidism and hyperparathyroid bone disease as a result of long-term elevation in parathyroid hormone.

Complications

Complications that can develop as a result of pseudohypoparathyroidism are:[1][2][3][4]

  • Complications of hypocalcemia associated with pseudohypoparathyroidism may include:
    • Seizures
    • Lowered sexual drive
    • Delayed sexual development
    • Lowered energy levels
    • Increased weight
  • Subcutaneous calcification in neonates

Prognosis

References

  1. ↑ Shalitin S, Davidovits M, Lazar L, Weintrob N (2008). "Clinical heterogeneity of pseudohypoparathyroidism: from hyper- to hypocalcemia". Horm. Res. 70 (3): 137–44. doi:10.1159/000137658. PMID 18663313.
  2. ↑ Adachi M, Muroya K, Asakura Y, Kondoh Y, Ishihara J, Hasegawa T (2009). "Ectopic calcification as discernible manifestation in neonates with pseudohypoparathyroidism type 1a". Int J Endocrinol. 2009: 931057. doi:10.1155/2009/931057. PMC 2778176. PMID 20011056.
  3. ↑ Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS (2012). "Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B". J. Clin. Endocrinol. Metab. 97 (9): 3025–30. doi:10.1210/jc.2012-1655. PMC 3431579. PMID 22736772.
  4. ↑ Balavoine AS, Ladsous M, Velayoudom FL, Vlaeminck V, Cardot-Bauters C, d'Herbomez M, Wemeau JL (2008). "Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH". Eur. J. Endocrinol. 159 (4): 431–7. doi:10.1530/EJE-08-0111. PMID 18805917.


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