Keywords
pseudohypoparathyroidism, hypothyroidism, phosphor-calcium metabolism, hypocalcemia, hyperphosphataemia, parathyroid hormone, calcitonin, tissue resistance, calcitriol
How to Cite
Rakov, O., & Muz, V. (2018). PSEUDOHYPOPARATHYROIDISM TYPE 1A: MEDICAL CASE AND LITERATURE ANALYSIS. The Practitioner, (1), 30-38. Retrieved from https://plr.com.ua/index.php/journal/article/view/7
Abstract
The article describes the medical case of pseudohypoparathyroidism type 1A with autosomal dominant inheritance characteristics, de novo mutation associated with thyrotropic resistance and hypercalcitoninemia. Clinical manifestations, features of the course of the disease in a patient are also described.
References
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2. Мокрышева Н.Г., Еремкина А.К., Ковалева Е.В. Гипопаратиреоз: современный взгляд на проблему // Альманах клинической медицины. — 2016. — № 44 (4). — С. 477-492.
3. Мокрышева Н.Г. Первичный гиперпаратиреоз. Эпидемиология, клиника, современные принципы диагностики и лечения. Дис. докт. мед. наук. — Москва, 2011. — 253 с.
4. Bae Y.J., Schaab M., Kratzsch J. Calcitonin as biomarker for the medullary thyroid carcinoma // Recent Results Cancer Res. — 2015. — Vol. 204. — Р. 117-137.
5. Vainas I., Marthopoulos A., Chrisoulidou A., Raptou K., Tziomalos K., Pazaitou-Panayiotou K. Calcitonin stimulation tests for the early diagnosis and follow-up of patients with C cell disease: a descriptive analysis // Hippokratia. — 2013 Jul. — Sep. — Vol. 17 (3). — P. 246-251.
6. Rosario P.W., Calsolari M.R. Usefulness of serum calcitonin in patients without a suspicious history of medullary thyroid carcinoma and with thyroid nodules without an indication for fine-needle aspiration or with benign cytology // Metab. Res. — 2016 Jun. — Vol. 48 (6). — P. 372-376.
7. Albright F., Burnett C.H., Smith P.H., Parson W. Pseudohypoparathyroidis. An example of seabright-Bantam syndrome // Endocrinology. — 1942. — Vol. 30. — Р. 922-932.
8. Hypoparathyroidism. Eds: Maria Luisa Brandi, Edward Meigs Brown. — 2015. — P. 355-362.
9. Nakamura Y., Matsumoto N., Nmakoshi A., Kawamura N., Seino Y., Kasuga M. et al. Prevalence of idiopatic hypoparathyroidism and pseudohypoparathyroidism in Japan // Epidemiol. — 2000 Jan. — Vol. 10 (1). — P. 29-33.
10. Levine M.A. An update on the clinical and molecular characteristics of pseudohypoparathyroidism // Curr. Opin. Endocrinol. Diabetes Obes. — 2012 Dec. — Vol. 19 (6). — P. 443-451.
11. Albrigt F., Forbers A.P., Henneman P.H. Pseudo-pseudohypoparathyroidism // Trans Assoc. Am. Physicians. — 1952. — Vol. 65. — P. 337-350.
12. Mantovani G., Elli F.M. Pseudohypoparathyroidism type Ib in 2015 // Ann. Endocrinol. (Paris). — 2015 May. — Vol. 76 (2). — P. 101-104.
13. Makita N., Sato J., Rondard P., Fukamachi H., Yuasa Y., Aldred M.A. et al. Human G (salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, potential cell-specific role of the palmitoylation cycle // Proc. Natl. Acad. Sci USA. — 2007. — Vol. 104. — P. 424-429.
14. Mantovani G., Ferrante E., Giavoli C., Linglart A., Cappa M., Cisternino M. et al. Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type 1a: first study on the effect on growth // J. Clin. Endocrinol. Metab. — 2010. — Vol. 95. — P. 5011-5017.
15. Mantovani G., Elli F.M., Spada A. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification? // Horm. Metab. Res. — 2012. — Vol. 44. — P. 716-723.
16. Mannava M., Masood A., Devi A.K. A case report of a 14 year old male with pseudohypoparathyroidism associated with multiple hormonal resistance // Indian J. Clin. Biochem. — 2015 Jan. — Vol. 30 (1). — P. 113-116.
17. Lemos M.C., Thakker R.V. GNAS mutations in pseudohypoparathyroidism type 1a and related disorders // Hum. Mutat. — 2015. — Vol. 36. — P. 11-19.
18. Sengupta S.I., Ravindran R.D., Kannusamy V., Tamrakar V. Двусторонний одновременный отек диска и катаракта, связанная с наследственной остеодистрофией Олбрайта // Ближневосточный офтальмологичный журн. — 2012. — Vol. 19 (1). — P. 166-168.
19. Sengupta S., Ravindran R.D., Kannusamy V., Tamrakar V., Mantovani G., et al. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification? // Horm. Metab. Res. — 2012. — Vol. 44. — P. 716-723.
20. Mantovani G.J. Pseudohypoparathyroidism: diagnosis and treatment // J. Clin. Endocrinol. Metab. — 2011 Oct. — Vol. 96 (10). — P. 3020-3030.
21. Щербак Ю.О. Спадкова остеодистрофія Олбрайта (псевдогіпопаратиреоз, тип Ia): клінічний випадок // Укр. журн. дит. ендокринології. — 2012. — № 1. — С. 88-91.
22. Roizen J.D., Danzig J., Groleau V., McCormack S., Casella A., Harrington J. et al. Resting energy expenditure is decreased in pseudohypoparathyroidism type І A // J. Clin. Endocrinol. Metab. — 2016. — Vol. 101. — P. 880-888.
23. Lopes M.P., Kliemann B.S., Bini I.B., Kulchetscki R., Borsani V., Savi L., Borba V.Z., Moreira C.A. Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications // Arch. Endocrinol. Metab. — 2016 Nov. — Dec. — Vol. 60 (6). — P. 532-536.__
24. Mantovani G., de Sanctis L., Barbieri A.M., Elli F.M., Bollati V., Vaira V., et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients // J. Clin. Endocrinol. Metabol. — 2011 Oct. — Vol. 96 (10). — P. 651-658.
25. Liskina A.S., Kudrjashova E.K., Nikitina I.L. Rare but not forgotten syndrome: Osteodystrophies Albright type A // Translational Medicine. — 2015. — Vol. 2 (3). — P. 98-102.
26. Clarke B.L., Brown E.M., Collins M.T., Jьppner H., Lakatos P., Levine M.A. et al. Epidemiology and diagnosis of hypoparathyroidism // J. Clin. Endocrinol. Metab. — 2016 Jun. — Vol. 101 (6). — P. 2284-2299.
27. Marx S.J., Hershman J.M. & Aurbach G.D. Thyroid dysfunction in pseudohypoparathyroidism // J. Clin. Endocrinol. Metabol. — 1971. — Vol. 33. — P. 822-828.
28. Vlaeminck-Guillem V., D’herbomez M., Pigny P., Fayard A., Bauters C., Decoulx M. & Wemeau J.L. Pseudohypoparathyroidism Ia and hypercalcitoninemia // J. Clin. Endocrinol. Metabol. — 2001. — Vol. 86. — P. 3091-3096.
29. Balavoine A.S., Ladsous M., Velayoudom F.L., Vlaeminck V., Cardot-Bauters C., d’Herbomez M., Wemeau J.L. Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH // Eur. J. Endocrinol. — 2008 Oct. — Vol. 159 (4). — P. 431-437.
30. Brutsaert E.F., Gersten A.J., Tassler A.B., Surks M.I. Medullary thyroid cancer with undetectable serum calcitonin // J. Clin. Endocrinol. Metabol. — 2015 Feb. — Vol. 100 (2). — P. 337-341.
31. Plagge A., Kelsey G., Germain-Lee E.L. Physiological functions of the imprinted Gnas locus and its protein variants Gбs and XLбs in human and mouse // J. Endocrinol. — 2008 Feb. — Vol. 196. — P. 193-214.
32. Richard N., Abigail G., Coudray N., Kottler M.L. Epigenetics and pseudohypoparathyroidism. Pathol. Biol. — 2010 Oct. — Vol. 58 (5). — P. 367-371.
33. Suh S.M., Kooh S.W., Chan A.M. Pseudohypoparathyroidism: No improvement following total thyroidectomy // J. Clin. Endocr. — 1969. — Vol. 29. — P. 429.
34. Kayemba-Kay’s S., Tripon C., Heron A., Hindmarsh P. Pseudohypoparathyroidism type 1A-subclinical hypothyroidism and rapid weight gain as early clinical signs: a clinical review of 10 cases // J. Clin. Res. Pediatr. Endocrinol. — 2016. — Vol. 8(4). — P. 432-438.
2. Мокрышева Н.Г., Еремкина А.К., Ковалева Е.В. Гипопаратиреоз: современный взгляд на проблему // Альманах клинической медицины. — 2016. — № 44 (4). — С. 477-492.
3. Мокрышева Н.Г. Первичный гиперпаратиреоз. Эпидемиология, клиника, современные принципы диагностики и лечения. Дис. докт. мед. наук. — Москва, 2011. — 253 с.
4. Bae Y.J., Schaab M., Kratzsch J. Calcitonin as biomarker for the medullary thyroid carcinoma // Recent Results Cancer Res. — 2015. — Vol. 204. — Р. 117-137.
5. Vainas I., Marthopoulos A., Chrisoulidou A., Raptou K., Tziomalos K., Pazaitou-Panayiotou K. Calcitonin stimulation tests for the early diagnosis and follow-up of patients with C cell disease: a descriptive analysis // Hippokratia. — 2013 Jul. — Sep. — Vol. 17 (3). — P. 246-251.
6. Rosario P.W., Calsolari M.R. Usefulness of serum calcitonin in patients without a suspicious history of medullary thyroid carcinoma and with thyroid nodules without an indication for fine-needle aspiration or with benign cytology // Metab. Res. — 2016 Jun. — Vol. 48 (6). — P. 372-376.
7. Albright F., Burnett C.H., Smith P.H., Parson W. Pseudohypoparathyroidis. An example of seabright-Bantam syndrome // Endocrinology. — 1942. — Vol. 30. — Р. 922-932.
8. Hypoparathyroidism. Eds: Maria Luisa Brandi, Edward Meigs Brown. — 2015. — P. 355-362.
9. Nakamura Y., Matsumoto N., Nmakoshi A., Kawamura N., Seino Y., Kasuga M. et al. Prevalence of idiopatic hypoparathyroidism and pseudohypoparathyroidism in Japan // Epidemiol. — 2000 Jan. — Vol. 10 (1). — P. 29-33.
10. Levine M.A. An update on the clinical and molecular characteristics of pseudohypoparathyroidism // Curr. Opin. Endocrinol. Diabetes Obes. — 2012 Dec. — Vol. 19 (6). — P. 443-451.
11. Albrigt F., Forbers A.P., Henneman P.H. Pseudo-pseudohypoparathyroidism // Trans Assoc. Am. Physicians. — 1952. — Vol. 65. — P. 337-350.
12. Mantovani G., Elli F.M. Pseudohypoparathyroidism type Ib in 2015 // Ann. Endocrinol. (Paris). — 2015 May. — Vol. 76 (2). — P. 101-104.
13. Makita N., Sato J., Rondard P., Fukamachi H., Yuasa Y., Aldred M.A. et al. Human G (salpha) mutant causes pseudohypoparathyroidism type Ia/neonatal diarrhea, potential cell-specific role of the palmitoylation cycle // Proc. Natl. Acad. Sci USA. — 2007. — Vol. 104. — P. 424-429.
14. Mantovani G., Ferrante E., Giavoli C., Linglart A., Cappa M., Cisternino M. et al. Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type 1a: first study on the effect on growth // J. Clin. Endocrinol. Metab. — 2010. — Vol. 95. — P. 5011-5017.
15. Mantovani G., Elli F.M., Spada A. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification? // Horm. Metab. Res. — 2012. — Vol. 44. — P. 716-723.
16. Mannava M., Masood A., Devi A.K. A case report of a 14 year old male with pseudohypoparathyroidism associated with multiple hormonal resistance // Indian J. Clin. Biochem. — 2015 Jan. — Vol. 30 (1). — P. 113-116.
17. Lemos M.C., Thakker R.V. GNAS mutations in pseudohypoparathyroidism type 1a and related disorders // Hum. Mutat. — 2015. — Vol. 36. — P. 11-19.
18. Sengupta S.I., Ravindran R.D., Kannusamy V., Tamrakar V. Двусторонний одновременный отек диска и катаракта, связанная с наследственной остеодистрофией Олбрайта // Ближневосточный офтальмологичный журн. — 2012. — Vol. 19 (1). — P. 166-168.
19. Sengupta S., Ravindran R.D., Kannusamy V., Tamrakar V., Mantovani G., et al. GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification? // Horm. Metab. Res. — 2012. — Vol. 44. — P. 716-723.
20. Mantovani G.J. Pseudohypoparathyroidism: diagnosis and treatment // J. Clin. Endocrinol. Metab. — 2011 Oct. — Vol. 96 (10). — P. 3020-3030.
21. Щербак Ю.О. Спадкова остеодистрофія Олбрайта (псевдогіпопаратиреоз, тип Ia): клінічний випадок // Укр. журн. дит. ендокринології. — 2012. — № 1. — С. 88-91.
22. Roizen J.D., Danzig J., Groleau V., McCormack S., Casella A., Harrington J. et al. Resting energy expenditure is decreased in pseudohypoparathyroidism type І A // J. Clin. Endocrinol. Metab. — 2016. — Vol. 101. — P. 880-888.
23. Lopes M.P., Kliemann B.S., Bini I.B., Kulchetscki R., Borsani V., Savi L., Borba V.Z., Moreira C.A. Hypoparathyroidism and pseudohypoparathyroidism: etiology, laboratory features and complications // Arch. Endocrinol. Metab. — 2016 Nov. — Dec. — Vol. 60 (6). — P. 532-536.__
24. Mantovani G., de Sanctis L., Barbieri A.M., Elli F.M., Bollati V., Vaira V., et al. Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients // J. Clin. Endocrinol. Metabol. — 2011 Oct. — Vol. 96 (10). — P. 651-658.
25. Liskina A.S., Kudrjashova E.K., Nikitina I.L. Rare but not forgotten syndrome: Osteodystrophies Albright type A // Translational Medicine. — 2015. — Vol. 2 (3). — P. 98-102.
26. Clarke B.L., Brown E.M., Collins M.T., Jьppner H., Lakatos P., Levine M.A. et al. Epidemiology and diagnosis of hypoparathyroidism // J. Clin. Endocrinol. Metab. — 2016 Jun. — Vol. 101 (6). — P. 2284-2299.
27. Marx S.J., Hershman J.M. & Aurbach G.D. Thyroid dysfunction in pseudohypoparathyroidism // J. Clin. Endocrinol. Metabol. — 1971. — Vol. 33. — P. 822-828.
28. Vlaeminck-Guillem V., D’herbomez M., Pigny P., Fayard A., Bauters C., Decoulx M. & Wemeau J.L. Pseudohypoparathyroidism Ia and hypercalcitoninemia // J. Clin. Endocrinol. Metabol. — 2001. — Vol. 86. — P. 3091-3096.
29. Balavoine A.S., Ladsous M., Velayoudom F.L., Vlaeminck V., Cardot-Bauters C., d’Herbomez M., Wemeau J.L. Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH // Eur. J. Endocrinol. — 2008 Oct. — Vol. 159 (4). — P. 431-437.
30. Brutsaert E.F., Gersten A.J., Tassler A.B., Surks M.I. Medullary thyroid cancer with undetectable serum calcitonin // J. Clin. Endocrinol. Metabol. — 2015 Feb. — Vol. 100 (2). — P. 337-341.
31. Plagge A., Kelsey G., Germain-Lee E.L. Physiological functions of the imprinted Gnas locus and its protein variants Gбs and XLбs in human and mouse // J. Endocrinol. — 2008 Feb. — Vol. 196. — P. 193-214.
32. Richard N., Abigail G., Coudray N., Kottler M.L. Epigenetics and pseudohypoparathyroidism. Pathol. Biol. — 2010 Oct. — Vol. 58 (5). — P. 367-371.
33. Suh S.M., Kooh S.W., Chan A.M. Pseudohypoparathyroidism: No improvement following total thyroidectomy // J. Clin. Endocr. — 1969. — Vol. 29. — P. 429.
34. Kayemba-Kay’s S., Tripon C., Heron A., Hindmarsh P. Pseudohypoparathyroidism type 1A-subclinical hypothyroidism and rapid weight gain as early clinical signs: a clinical review of 10 cases // J. Clin. Res. Pediatr. Endocrinol. — 2016. — Vol. 8(4). — P. 432-438.
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