Pseudohypoparathyroidism natural history, complications and prognosis: Difference between revisions
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==Natural History== | ==Natural History== | ||
*If left untreated,patients with pseudohypoparathyroidism type1a , type 1c and pseudopseudohypoparathyroidism | *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 | **Subcutaneous ossifications | ||
**Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]] | **Shortening of third, fourth, and fifth [[metacarpals]] and [[metatarsals]] | ||
| Line 13: | Line 13: | ||
**Frontal bossing | **Frontal bossing | ||
**Dental [[hypoplasia]] | **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. | *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== | ||
| Line 28: | Line 28: | ||
*Patients with pseudohypoparathyroidism type Ia have an increased rate of other endocrine abnormalities (such as [[hypothyroidism (patient information)|hypothyroidism]] and [[hypogonadism (patient information)|hypogonadism]]) | *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 | *Complications of [[hypocalcemia]] associated with pseudohypoparathyroidism may include: | ||
**[[Seizures]] | **[[Seizures]] | ||
**Lowered sexual drive | **Lowered sexual drive | ||
| Line 45: | Line 45: | ||
***[[Cryptorchidism]] | ***[[Cryptorchidism]] | ||
*Pseudohypoparathyroidism type 1b patients are at risk of developing tertiary [[hyperparathyroidism]] and [[hyperparathyroid]] bone disease | *Pseudohypoparathyroidism type 1b patients are at risk of developing tertiary [[hyperparathyroidism]] and [[hyperparathyroid]] bone disease. | ||
*[[Osteopenia]] and [[rickets]] in peudohypoparathyroidism type 1a | *[[Osteopenia]] and [[rickets]] in peudohypoparathyroidism type 1a are associated with variable [[osteoclast]] responsiveness to [[parathyroid]] hormone. | ||
==Prognosis== | ==Prognosis== | ||
* In few cases of pseudohypoparathyroidism, [[calcium]] [[homeostasis]] adapts to [[parathyroid]] hormone resistance resulting in resolution of [[hypocalcemia]] | * 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 | * 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]] | * Long term [[levothyroxine]] is used in patients with associated [[Hypothyroidism|hypothyroidism]]. | ||
==References== | ==References== | ||
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:
- 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 that can develop as a result of pseudohypoparathyroidism are:[1][2][3][4]
- 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 and 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
- Women may experience:
- 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.
Prognosis
- 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.
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.