Рекомендації щодо діагностики та лікування псевдогіпопаратиреозу та пов’язаних з ним розладів: оновлені практичні настанови для лікарів і пацієнтів
DOI:
https://doi.org/10.30978/UJPE2020-3-37Ключові слова:
акродизостоз, розлади кісток, брахідактилія, обмін кальцію та фосфатів, консенсус, діагностика, управління, осифікація, паратиреоїдний гормон, псевдогіпопаратиреоз, лікуванняАнотація
Пацієнти, які постраждали від псевдогіпопаратиреозу або пов’язаних з ним розладів, характеризуються такими фізичними ознаками, як брахідактилія, невисокий зріст, кремезна будова тіла, ожиріння з раннім початком, ектопічна осифікація, затримка неврологічного розвитку, а також резистентністю до гормонів, найбільш виражену до паратиреоїдного гормону. Крім того, у пацієнтів може виникати резистентність до інших гормонів, що призводить до маніфестного або субклінічного гіпотиреозу, гіпогонадизму та дефіциту гормону росту, порушення росту без доказів гормональних відхилень за результатами вимірювань, діабету 2 типу та проблем зі скелетом з потенційно серйозним обмеженням рухливості. Псевдогіпопаратиреоз та супутні розлади — це насамперед клінічний діагноз. З огляду на мінливість клінічного, рентгенологічного та біохімічного стану, встановлення молекулярного діагнозу має вирішальне значення для пацієнтів. Це полегшує лікування, зокрема профілактику ускладнень, скринінг і лікування ендокринних дефіцитів, підтримувальні заходи та відповідні генетичні консультації. На основі першої міжнародної консенсусної заяви щодо зазначених розладів ця стаття пропонує оновлений та готовий до використання інструмент, який допоможе лікарям і пацієнтам визначити відповідні втручання та їх терміни.
Рекомендується застосовувати скоординований протягом усього життя мультидисциплінарний підхід, починаючи, наскільки це можливо, у ранньому дитинстві та продовжуючи протягом усього дорослого життя з відповідним і своєчасним переходом від педіатричної до дорослої медичної допомоги.
Посилання
Albright F, Burnett CH, Smith PH, Parson W. Pseudohypoparathyroidism — an example of «Seabright-Bantam syndrome». Endocrinol. 1942;30:922-932.
Mantovani G, Spada A, Elli FM. Pseudohypo-parathyroidism and Gsα-cAMP-linked disorders: current view and open issues. Nat Rev Endocrinol. 2016 Jun. 12 (6):347-356.
Hanna P, Grybek V, Perez de Nanclares G, Tran LC, de Sanctis L, Elli F et al. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity. J Bone Miner Res. 2018 Aug. 33 (8):1480-1488.
Grüters-Kieslich A, Reyes M, Sharma A, Demirci C, DeClue TJ, Lankes E et al. Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes. J Clin Endocrinol Metab. 2017 Aug; 102 (8):2670-2677.
Shoemaker AH, Jüppner H. Nonclassic features of pseudohypoparathyroidism type 1A. Curr Opin Endocrinol Diabetes Obes. 2017 Feb. 24 (1):33-38.
Miyakawa Y, Takasawa K, Matsubara Y, Ihara K, Ohtsu Y, Kamasaki H et al. Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism.
Perez KM, Lee EB, Kahanda S, Duis J, Reyes. M, Jüppner H et al. Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. Am J Med. Genet. 2018 Feb. 176 (2):283-289.
Weinstein LS, Gejman PV, Friedman E, Kadowaki T, Collins R. M., Gershon ES et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. Proc Natl Acad Sci USA. 1990 Nov. 87 (21):8287-8290.
Patten JL, Johns DR, Valle D, Eil C, Gruppuso PA, Steele G et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright’s hereditary osteodystrophy. N Engl J Med. 1990 May. 322 (20):1412-1419.
Davies SJ, Hughes HE. Imprinting in Albright’s hereditary osteodystrophy. J Med Genet. 1993 Feb. 30 (2):101-103.
Shore EM, Ahn J, Jan de Beur S, Li M, Xu M, Gardner RJ et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med. 2002 Jan. 346 (2):99-106.
Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H et al. Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest. 2003 Oct. 112 (8):1255-1263.
Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E et al. Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. Am J Hum Genet. 2012 Apr. 90 (4):740-745.
Linglart A, Menguy C, Couvineau A, Auzan C, Gunes Y, Cancel M et al. Recurrent PRKA-R1A mutation in acrodysostosis with hormone resistance. N Engl J Med. 2011 Jun; 364 (23):2218-2226.
Thiele S, Mantovani G, Barlier A, Boldrin V, Bordogna P, De Sanctis L et al. From pseudo-hypoparathyroidism to inactivating PTH/ PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network. Eur J Endocrinol. 2016 Dec. 175 (6):1-11.
Mantovani G. Clinical review: Pseudohypo-parathyroidism: diagnosis and treatment. J Clin Endocrinol Metab. 2011 Oct. 96 (10):3020-3030.
Turan S, Bastepe M. GNAS Spectrum of Disorders. Curr Osteoporos Rep. 2015 Jun. 13 (3):146-158.
Lee H, Graham JM Jr, Rimoin DL, Lachman RS, Krejci P, Tompson SW et al. Exome sequencing identifies PDE4D mutations in acrodysostosis. Am J Hum Genet. 2012 Apr; 90 (4):746-751.
Boda H, Uchida H, Takaiso N, Ouchi Y, Fujita N, Kuno A et al. A PDE3A mutation in familial hypertension and brachydactyly syndrome. J Hum Genet. 2016 Aug. 61 (8):701-03.
Elli FM, deSanctis L, Ceoloni B, Barbieri AM, Bordogna P, Beck-Peccoz P et al. Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations. Hum Mutat. 2013 Mar. 34 (3):411-416.
Elli FM, Linglart A, Garin I, de Sanctis L, Bordogna P, Grybek V et al. The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the Euro-PHP Network. J Clin Endocrinol Metab. 2016 Oct. 101 (10):3657-3668.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A. et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement. Nat Rev Endocrinol. 2018 Aug. 14 (8):476-500.
Thiele S, Werner R, Grötzinger J, Brix B, Staedt P, Struve D et al. A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene. Mol Genet Genomic Med. 2015 Mar. 3 (2):111-120.
Shoback DM, Bilezikian JP, Costa AG, Dempster D, Dralle H, Khan AA et al. Presentation of Hypoparathyroidism: Etiologies and Clinical Features. J Clin Endocrinol Metab. 2016 Jun. 101 (6):2300-2312.
Gelfand IM, Eugster EA, DiMeglio LA. Presentation and clinical progression of pseudo-hypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series. J Pediatr. 2006 Dec. 149 (6):877-880.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J et al. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. J Clin Endocrinol Metab. 2012 Dec; 97 (12):E2328-2338.
Elli FM, Bordogna P, de Sanctis L, Giachero F, Verrua E, Segni M et al. Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. J Bone Miner Res. 2016 Jun. 31 (6):1215-1424.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM et al. Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. J Med Genet. 2014 Jan. 51 (1):45-11.
Linglart A, Maupetit-Méhouas S, Silve C. GNAS -Related Loss-of-Function Disorders and the Role of Imprinting. Horm Res Paediatr. 2013;79 (3):119-129.
Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, van Biesen W et al., European Society of Endocrinology. European Society of Endocrinology Clinical Guideline: treatment of chronic hypoparathyroidism in adults. Eur J Endocrinol. 2015 Aug; 173 (2):G1-20.
Murray TM, Rao LG, Wong MM, Waddell JP, McBroom R, Tam CS et al. Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. J Bone Miner Res. 1993 Jan. 8 (1):83-91.
Kidd GS, Schaaf M, Adler RA, Lassman MN, Wray HL. Skeletal responsiveness in pseudo-hypoparathyroidism. A spectrum of clinical disease. Am J Med. 1980 May. 68 (5):772-781.
Sbrocchi AM, Rauch F, Lawson ML, Hadjiyannakis S, Lawrence S, Bastepe M et al. Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis. Eur J Endocrinol. 2011 Feb. 164 (2):295-301.
Neary NM, El-Maouche D, Hopkins R, Libutti SK, Moses AM, Weinstein LS. Development and treatment of tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1B. J Clin Endocrinol Metab. 2012 Sep. 97 (9):3025-3030.
Hansen DW, Nebesio TD, DiMeglio LA, Eugster EA, Imel EA. Prevalence of Nephrocalcinosis in Pseudohypoparathyroidism: Is Screening Necessary?. J Pediatr. 2018 Aug; 199:263-266.
Chen YJ, Shu SG, Chi CS. Pseudohypoparathyroidism: report of seven cases. Acta Paediatr Taiwan. 2005 Nov-Dec. 46 (6):374-380.
Bhadada SK, Bhansali A, Upreti V, Subbiah S, Khandelwal N. Spectrum of neurological manifestations of idiopathic hypoparathyroidism and pseudohypoparathyroidism. Neurol India. 2011 Jul-Aug. 59 (4):586-589.
Kadilli I, Colicchio S, Guglielmo R, Vollono C, Della Marca G, Janiri L. Clinical insights by the presence of bipolar disorder in pseudohypoparathyroidism type 1A. Gen Hosp Psychiatry. 2015 Sep-Oct. 37 (5):497.e3-5.
Lemos MC, Thakker RV. GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders. Hum Mutat. 2015 Jan. 36 (1):11-19.
Lynch DC, Dyment DA, Huang L, Nikkel SM, Lacombe D, Campeau PM et al., FORGE Canada Consortium. Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan. 34 (1):97-102.
Underbjerg L, Sikjaer T, Mosekilde L, Rejnmark L. Pseudohypoparathyroidism -epidemiology, mortality and risk of complications. Clin Endocrinol (Oxf). 2016 Jun. 84 (6):904-194.
Grajewski RS, Koch KR, Koch HR, Ciotu IM, Cursiefen C, Heindl LM. Cataract in pseudo-hypoparathyroidism. J Cataract Refract Surg. 2016 Jul. 42 (7):1094-1096.
Clarke BL, Brown EM, Collins MT, Jüppner H, Lakatos P, Levine MA et al. Epidemiology and Diagnosis of Hypoparathyroidism. J Clin Endocrinol Metab. 2016 Jun. 101 (6):2284-2299.
Sunder RA, Singh M. Pseudohypoparathyroidism: a series of three cases and an unusual presentation of ocular tetany. Anaesthesia 2006 Apr. 61 (4):394-398.
Maheshwari R, Rani RP, Prasad RN, Reddy KT, Reddy AP. Visual disturbances as a presenting feature of pseudohypoparathyroidism. Indian J Endocrinol Metab. 2013 Oct; 17 (7 Suppl 1):S219-220.
Reis MT, Matias DT, Faria ME, Martin RM. Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels. Bone. 2016 Apr. 85:138-141.
Ritchie GM. Dental manifestations of pseudohypoparathyroidism. Arch Dis Child. 1965 Oct. 40 (213):565-572.
Hejlesen J, Underbjerg L, Gjørup H, Bloch-Zupan A, Sikjaer T, Rejnmark L et al. Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review. Front Physiol. 2018 Jun. 9:701.
Le Norcy E, Reggio-Paquet C, de Kerdanet M, Mignot B, Rothenbuhler A, Chaussain C et al. Dental and craniofacial features associated with GNAS loss of function mutations. Eur J Orthod. 2019 Nov. cjz084.
Schlund M, Depeyre A, Kohler F, Nicot R, Ferri J. Cranio-Maxillofacial and Dental Findings in Albright’s Hereditary Osteodystrophy and Pseudohypoparathyroidism. Cleft Palate Craniofac J. 2019 Jul. 56 (6):831-836.
Salemi P, Skalamera Olson JM, Dickson LE, Germain-Lee EL. Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI. J Clin Endocrinol Metab. 2018 Jan; 103 (1):158-168.
Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med. Genet A. 2008 Jul. 146A (14):1788-1796.
Pignolo RJ, Xu M, Russell E, Richardson A, Kaplan J, Billings PC et al. Heterozygous inactivation of Gnas in adipose-derived mesenchymal progenitor cells enhances osteoblast differentiation and promotes heterotopic ossification. J Bone Miner Res. 2011 Nov. 26 (11):2647-2655.
Regard JB, Malhotra D, Gvozdenovic-Jeremic J, Josey M, Chen M, Weinstein LS et al. Activation of Hedgehog signaling by loss of GNAS causes heterotopic ossification. Nat Med. 2013 Nov. 19 (11):1505-1512.
Huso DL, Edie S, Levine MA, Schwindinger W, Wang Y, Juppner H et al. Heterotopic ossifications in a mouse model of Albright hereditary osteodystrophy. PLoS One. 2011;6 (6). —e21755.
Convente MR, Wang H, Pignolo RJ, Kaplan FS, Shore EM. The immunological contribution to heterotopic ossification disorders. Curr Osteoporos Rep. 2015 Apr. 13 (2):116-124.
Pignolo RJ, Ramaswamy G, Fong JT, Shore EM, Kaplan FS. Progressive osseous heteroplasia: diagnosis, treatment, and prognosis. Appl Clin Genet. 2015 Jan. 8:37-48.
Schrander DE, Welting TJ, Caron MM, Schrander JJ, van Rhijn LW, Körver-Keularts I et al. Endochondral ossification in a case of progressive osseous heteroplasia in a young female child. J Pediatr. Orthop B. 2014 Sep; 23 (5):477-484.
de Sanctis L, Vai S, Andreo MR, Romagnolo D, Silvestro L, de Sanctis C. Brachydactyly in 14 genetically characterized pseudohypo-parathyroidism type Ia patients. J Clin Endocrinol Metab. 2004 Apr. 89 (4):1650-1655.
Virágh K, Tőke J, Sallai A, Jakab Z, Rácz K, Tóth M. Gradual development of brachydactyly in pseudohypoparathyroidism. J Clin Endocrinol Metab. 2014 Jun. 99 (6):1945-1946.
Joseph AW, Shoemaker AH, Germain-Lee EL. Increased prevalence of carpal tunnel syndrome in Albright hereditary osteodystrophy. J Clin Endocrinol Metab. 2011 Jul. 96 (7):2065-2073.
Sanchez J, Perera E, Jan de Beur S, Ding C, Dang A, Berkovitz GD et al. Madelung-like deformity in pseudohypoparathyroidism type 1b. J Clin Endocrinol Metab. 2011 Sep; 96 (9):E1507-1511.
Okada K, Iida K, Sakusabe N, Saitoh H, Abe E, Sato K. Pseudohypoparathyroidism-associated spinal stenosis. Spine. 1994 May. 19 (10 Supplement):1186-1189.
García García E, Rivero Garvía M, Alonso Luengo O. Craniosynostosis as the first manifestation of an Albright’s osteodystrophy associated with pseudohypoparathyroidism type 1A. Med Clin (Barc). 2017;149 (4):184-185.
Mantovani G, Ferrante E, Giavoli C, Linglart A, Cappa M, Cisternino M et al. Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: first study on the effect on growth. J Clin Endocrinol Metab. 2010 Nov. 95 (11):5011-5017.
Kinoshita K, Minagawa M, Anzai M, Sato Y, Kazukawa I, Shimohashi K et al. Characteristic Height Growth Pattern in Patients with Pseudohypoparathyroidism: comparison between Type 1a and Type 1b. Clin Pediatr Endocrinol. 2007;16 (1):31-36.
Long DN, McGuire S, Levine MA, Weinstein LS, Germain-Lee EL. 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. 2007 Mar; 92 (3):1073-1079.
Wang L, Shoemaker AH. Eating behaviors in obese children with pseudohypoparathyroidism type 1a: a cross-sectional study. Int J Pediatr Endocrinol. 2014;2014 (1):21.
Perez KM, Curley KL, Slaughter JC, Shoemaker AH. Glucose homeostasis and energy balance in children with pseudohypoparathyroidism. J Clin Endocrinol Metab. 2018 Nov; 103 (11):4265-4274.
Roizen JD, Danzig J, Groleau V, McCormack S, Casella A, Harrington J et al. Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A. J Clin Endocrinol Metab. 2016 Mar. 101 (3):880-888.
Shoemaker AH, Lomenick JP, Saville BR, Wang W, Buchowski MS, Cone RD. Energy expenditure in obese children with pseudohypoparathyroidism typ 1a. Int J Obes. 2013 Aug. 37 (8):1147-1153.
Carel JC, Le Stunff C, Condamine L, Mallet E, Chaussain JL, Adnot P et al. Resistance to the lipolytic action of epinephrine: a new feature of protein Gs deficiency. J Clin Endocrinol Metab. 1999 Nov. 84 (11):4127-4131.
Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M et al. Growth hormone-releasing hormone resistance in pseudohypoparathyroidism type ia: new evidence for imprinting of the Gs alpha gene. J Clin Endocrinol Metab. 2003 Sep. 88 (9):4070-4074.
Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA. Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab. 2003 Sep; 88 (9):4059-4069.
Liu JJ, Russell E, Zhang D, Kaplan FS, Pignolo RJ, Shore EM. Paternally inherited gsα mutation impairs adipogenesis and potentiates a lean phenotype in vivo. Stem Cells. 2012 Jul; 30 (7):1477-1485.
Germain-Lee EL. Management of pseudohypoparathyroidism. Curr Opin Pediatr. 2019 Aug. 31 (4):537-549.
Landreth H, Malow BA, Shoemaker AH. Increased Prevalence of Sleep Apnea in Children with Pseudohypoparathyroidism Type 1a. Horm Res Paediatr. 2015;84 (1):1-5.
Curley KL, Kahanda S, Perez KM, Malow BA, Shoemaker AH. Obstructive Sleep Apnea and Otolaryngologic Manifestations in Children with Pseudohypoparathyroidism. Horm Res Paediatr. 2018;89 (3):178-183.
Muniyappa R, Warren MA, Zhao X, Aney SC, Courville AB, Chen KY et al. Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab. 2013 Nov. 98 (11). E1796-1801.
Underbjerg L, Sikjaer T, Rejnmark L. Cardio-vascular findings in patients with nonsurgical hypoparathyroidism and pseudohypoparathyroidism: A cohort study. Clin Endocrinol (Oxf). 2019 Apr. 90 (4):592-600.
Brickman AS, Stern N, Sowers JR. Hypertension in pseudohypoparathyroidism type I. Am J Med. 1988 Dec. 85 (6):785-92.
Mouallem M, Shaharabany M, Weintrob N, Shalitin S, Nagelberg N, Shapira H et al. Cognitive impairment is prevalent in pseudohypoparathyroidism type Ia, but not in pseudopseudohypoparathyroidism: possible cerebral imprinting of Gsalpha. Clin Endocrinol (Oxf). 2008 Feb. 68 (2):233-239.
Farfel Z, Friedman E. Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Ann Intern Med. 1986 Aug. 105 (2):197-199.
Chen M, Wang J, Dickerson KE, Kelleher J, Xie T, Gupta D et al. Central nervous system imprinting of the G protein G (s)alpha and its role in metabolic regulation. Cell Metab. 2009 Jun. 9 (6):548-555.
Martínez-Lage JF, Guillén-Navarro E, López-Guerrero AL, Almagro MJ, Cuartero-Pérez B, de la Rosa P. Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis. Childs Nerv Syst. 2011 Dec; 27 (12):2035-2039.
Kashani P, Roy M, Gillis L, Ajani O, Samaan MC. The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?. Case Rep Med. 2016;2016:7645938.
Visconti P, Posar A, Scaduto MC, Russo A, Tamburrino F, Mazzanti L. Neuropsychiatric phenotype in a child with pseudohypoparathyroidism. J Pediatr Neurosci — 2016 Jul-Sep; 11 (3):267-270.
Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD et al. Paternal imprinting of Galpha (s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun. 2002 Aug. 296 (1):67-72.
Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A. The gsalpha gene: pre-dominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab. 2002 Oct. 87 (10):4736-4740.
Liu J, Erlichman B, Weinstein LS. The stimulatory G protein alpha-subunit Gs alpha is imprinted in human thyroid glands: implications for thyroid function in pseudohypo-parathyroidism types 1A and 1B. J Clin Endocrinol Metab. 2003 Sep. 88 (9):4336-4341.
Lazarus J, Brown RS, Daumerie C, Hubalewska-Dydejczyk A, Negro R, Vaidya B. 2014 European thyroid association guidelines for the management of subclinical hypothyroidism in pregnancy and in children. Eur Thyroid J. 2014 Jun. 3 (2):76-94.
Namnoum AB, Merriam GR, Moses AM, Levine MA. Reproductive dysfunction in women with Albright’s hereditary osteodystrophy. J Clin Endocrinol Metab. 1998 Mar; 83 (3):824-829.
Linglart A, Carel JC, Garabédian M, Lé T, Mallet E, Kottler ML. GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab. 2002 Jan. 87 (1):189-197.
Mantovani G, Bondioni S, Linglart A, Maghnie M, Cisternino M, Corbetta S et al. Genetic analysis and evaluation of resistance to thyrotropin and growth hormone-releasing hormone in pseudohypoparathyroidism type Ib. J Clin Endocrinol Metab. 2007 Sep. 92 (9):3738-3742.
Takatani R, Molinaro A, Grigelioniene G, Tafaj O, Watanabe T, Reyes M et al. Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion. J Bone Miner Res. 2016 Apr. 31 (4):796-805.
Long DN, Levine MA, Germain-Lee EL. Bone mineral density in pseudohypoparathyroidism type 1a. J Clin Endocrinol Metab. 2010 Sep. 95 (9):4465-4475.
Underbjerg L, Malmstroem S, Sikjaer T, Rejnmark L. Bone Status Among Patients With Nonsurgical Hypoparathyroidism, Autosomal Dominant Hypocalcaemia, and Pseudohypoparathyroidism: A Cohort Study. J Bone Miner Res. 2018 Mar. 33 (3):467-477.
Wägar G, Lehtivuori J, Salvén I, Backman R, Sivula A. Pseudohypoparathyroidism associated with hypercalcitoninaemia. Acta Endocrinol (Copenh). 1980 Jan. 93 (1):43-48.
Vlaeminck-Guillem V, D’herbomez M, Pigny P, Fayard A, Bauters C, Decoulx M et al. Pseudohypoparathyroidism Ia and hypercalcitoninemia. J Clin Endocrinol Metab. 2001 Jul. 86 (7):3091-3306.
Levine MA, Downs RW Jr, Moses AM, Breslau NA, Marx SJ, Lasker RD et al. Resistance to multiple hormones in patients with pseudohypoparathyroidism. Association with deficient activity of guanine nucleotide regulatory protein. Am J Med. 1983 Apr; 74 (4):545-556.
Garin I, Elli FM, Linglart A, Silve C, de Sanctis L, Bordogna P et al. Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: characterization of the underlying mechanisms. J Clin Endocrinol Metab. 2015 Apr. 100 (4). E681-687.
Turan S, Thiele S, Tafaj O, Brix B, Atay Z, Abali S et al. Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS. Bone. 2015 Feb. 71:53-57.
Liu J, Litman D, Rosenberg MJ, Yu S, Biesecker LG, Weinstein LS. A GNAS1 imprinting defect in pseudohypoparathyroidism type IB. J Clin Invest. 2000 Nov. 106 (9):1167-1174.
Liu J, Nealon JG, Weinstein LS. Distinct patterns of abnormal GNAS imprinting in familial and sporadic pseudohypoparathyroidism type IB. Hum Mol Genet. 2005 Jan; 14 (1):95-102.
Takatani R, Minagawa M, Molinaro A, Reyes M, Kinoshita K, Takatani T et al. Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypo-parathyroidism type Ib (sporPHP1B). Bone. 2015 Oct. 79:15-20.
Bastepe M, Lane AH, Jüppner H. Paternal uniparental isodisomy of chromosome 20q–and the resulting changes in GNAS1 methylation–as a plausible cause of pseudo-hypoparathyroidism. Am J Hum Genet. 2001 May. 68 (5):1283-1289.
Alsum Z, Abu Safieh L, Nygren AO, Al-Hamed MA, Alkuraya FS. Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b. Genet Test Mol Biomarkers. 2010 Feb; 14 (1):135-139.
