Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Lee, Ye Seung; Kim, Hui Kwon; Kim, Hye Rim; Lee, Jong Yoon; Choi, Joong Wan; Bae, Eun Ju; Oh, Phil Soo; Park, Won Il; Ki, Chang Seok; Lee, Hong Jin

doi:10.3345/kjp.2014.57.5.240

Cited by 5 publications

(7 citation statements)

References 11 publications

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“…In patients with PHP1A, the average level of TSH is 14.1 ± 10.3 mUI/1, with a range of 1.4 mUI/1 to 46.0 mUI/1 (REFS 24,30,38,67,98,100,117,119,122,123,129,144–146,149,193–205 ) A prompt diagnosis of hypothyroidism after birth and initiation of treatment does not seem to prevent the development of motor or cognitive delay 24 .…”

Section: Managementmentioning

confidence: 99%

“…Unassisted and uneventful pregnancies have been reported in female patients with PHP1A 120,221 and autosomal dominant PHP1B 44,72,153,160,216 ; these pregnancies are more often seen in women with PPHP, who give birth to offspring with PHP1A 24,36,45,117,122,221–223 . In a few cases, either infertility 193 or the need for the use of an assisted reproductive technique to obtain pregnancy 47,224,225 have been reported.…”

Section: Managementmentioning

confidence: 99%

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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

et al. 2018

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This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency, hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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Section: Managementmentioning

confidence: 99%

Section: Managementmentioning

confidence: 99%

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

et al. 2018

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“…Elevated levels of calcitonin might be considered as a marker of hormone resistance in a patient with a PHP or related disorder 114,115 Resistance to gonadotropins seems to be less severe than resistance to other hormones, such as PTH and TSH; laboratory abnormalities indicating elevated levels of luteinizing hormone (LH) or follicle-stimulating hormone (FSH) have been reported by some groups [116][117][118][119][120][121] , whereas others could not confirm these findings [122][123][124][125][126][127] . These findings have led to the hypothesis that patients with PHP1A display only partial resistance to gonadotropins 120 .…”

Section: Additional Frequent Clinical Featuresmentioning

confidence: 99%

“…Unassisted and uneventful pregnancies have been reported in female patients with PHP1A 120,221 and autosomal dominant PHP1B 44,72,153,160,216 ; these pregnancies are more often seen in women with PPHP, who give birth to offspring with PHP1A 24,36,45,117,122,[221][222][223] . In a few cases, either infertility 193 or the need for the use of an assisted reproductive technique to obtain pregnancy 47,224,225 have been reported.…”

Section: Alterations In Gonadal Functionmentioning

confidence: 99%

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani¹,

Lecumberri²,

Baştepe³

et al. 2018

EJEA

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Pseu do hy popar ath yroi dism (PHP) and related disorders are associated with a spectrum of abnormal physical characteristics as well as neurocognitive and endocrine abnormalities that are caused primarily by molecular defects that impair hormonal signalling via receptors that are coupled, through the α-subunit of the stimulatory G protein (G s α), to activation of adenylyl cyclase (Fig. 1). 6,7,20,48 * Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseu do hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency , hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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“…Some PHP1A patients also demonstrate elevated gonadotropin levels which represents gonadotropin resistance ( 8 , 9 , 10 , 11 , 12 ). This finding was mainly reported in female PHP1A patients who presented with either amenorrhea or oligomenorrhea ( 9 , 10 , 11 ).…”

Section: Introductionmentioning

confidence: 99%

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation

Wankanit¹,

Mahachoklertwattana²,

Tim‐Aroon³

et al. 2022

Jcrpe

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Pseudohypoparathyroidism (PHP) type 1A (PHP1A) is a disorder of multiple hormone resistance, mainly parathyroid hormone. It is associated with Albright hereditary osteodystrophy phenotypes. Patients with PHP1A may initially present with hypothyroidism during infancy and later develop typical PHP1A characteristics during their childhood. Central precocious puberty (CPP) is extremely rare among PHP1A patients in whom gonadotropin resistance is more usual. This is a case report of a 9.5-year-old boy with congenital hypothyroidism who developed hypocalcemia secondary to PHP. He had relatively short stature with height standard deviation score of -0.9. Obesity had been noted since the age of two years. At the presentation of PHP, pubertal-sized testes of 10 mL were observed, and CPP was documented with serum testosterone concentration of 298 ng/dL (normal for Tanner stage III, 100-320), luteinizing hormone of 3.9 IU/L (normal, 0.2-5.0), and follicle stimulating hormone of 4.8 IU/L (normal, 1.2-5.8). Pituitary magnetic resonance imaging was unremarkable. Genetic analysis confirmed the diagnosis of PHP1A with a novel heterozygous missense variant of GNAS gene in exon 13, c.1103A>G (p.Asp368Gly). Awareness of PHP1A diagnosis in patients with congenital hypothyroidism and early childhood-onset obesity is important for early diagnosis. Apart from multiple hormone resistance, CPP may manifest in patients with PHP1A.

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Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia

Cited by 5 publications

References 11 publications

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation

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