Multihormonal Resistance to Parathyroid Hormone, Thyroid Stimulating Hormone, and Other Hormonal and Neurosensory Stimuli in Patients with Pseudohypoparathyroidism

Jl, Wémeau; As, Balavoine; Ladsous, M.; Fl, Velayoudom-Cephise; Vlaeminck-Guillem,

doi:10.1515/jpem.2006.19.s2.653

Cited by 16 publications

(13 citation statements)

References 48 publications

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“…The high prevalence of this hormone defect in patients with PHP Ia was underlined in a large series (3); Table 4 presents a review of the literature on thyroid function in patients with PHP Ia. Hypothyroidism can be associated with other hormone disorders such as hypogonadism, growth hormone deficiency (14), high calcitonin levels (15), and sensorial defects (16), and is attributed to multiple peripheral resistance (3, 16).…”

Section: Discussionmentioning

confidence: 99%

Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH

Balavoine¹,

Ladsous²,

Vélayoudom³

et al. 2008

European Journal of Endocrinology

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Objective: Hypothyroidism is a manifestation of multi-hormonal resistance in pseudohypoparathyroidism type Ia (PHP Ia). The objective of the study was to determine the mechanisms of hypothyroidism in PHP Ia. Design: A prospective study. Patients: Ten patients with PHP Ia. Measurements: The serum concentrations of TSH, free triiodothyronine (FT 3 ), free thyroxine (FT 4 ), and prolactin (PRL) were measured at baseline and after stimulation with TRH (200 mg i.v). Results: The median basal serum TSH concentration was 4.92 mU/l. Basal serum TSH concentration was slightly elevated in eight patients (4.22-7.0 mU/l; normal range, 0.4-3.6 mU/l), normal in one patient (2.5 mU/l), and high in one patient (13.1 mU/l). After the TRH test, TSH concentrations increased to 13.4-36.0 mU/l (normal range, 4.0-20.0 mU/l). The absolute values after the test were normal in three patients and high in seven patients. However, TSH responses relative to the baseline value (stimulated/basal TSH and expressed as a fold increase), which reflect the relative increases after TRH stimulation, were low in seven patients (2.3-to 4.3-fold TSH) and normal in three patients. Basal FT 4 concentration was normal in seven patients and low in three patients (range, 8.4-20.0 pmol/l; mean, 14.1G4.3 pmol/l; normal range, 10.5-23.0 pmol/l). Basal FT 3 concentration was normal in nine patients and low in one patient (range, 0.9-5.0 pmol/l; mean, 3.8G1.1 pmol/l; normal range, 3.3-6.1 pmol/l). FT 4 and FT 3 were not significantly increased after the TRH test. PRL concentration was normal at baseline and increased from 7 to 96 ng/ml after TRH. Conclusion: Our results support the hypothesis that patients with PHP Ia have impaired sensitivity to both TSH and TRH.

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Section: Discussionmentioning

confidence: 99%

Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH

Balavoine¹,

Ladsous²,

Vélayoudom³

et al. 2008

European Journal of Endocrinology

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“…Thyroid tissue, like renal cortex, demonstrates paternal imprinting; therefore, there is preferential expression of the maternal allele. 5 The thyroid profile in this patient was consistent with primary hypothyroidism.…”

Section: Commentmentioning

confidence: 53%

Short Fourth and Fifth Metacarpals

Desai

Kalra²

2012

JAMA

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“…Affected individuals show partial or complete resistance to biologically active exogenous PTH as demonstrated by impaired urinary cAMP. It is associated with other hormonal deficiencies including hypothyroidism in combination with phenotypic features of Albright's hereditary osteodystrophy (AHO), a physical stigmata characterized by short stature, obesity, brachydactyly subcutaneous ossification, and mental retardation [1,2,3,4,5,6]. …”

Section: Figmentioning

confidence: 99%

“…Seven transmembrane receptors for a wide variety of extracellular signals, including the glycoproteins and many peptides, catecholamines, and neurotransmitters, all activate G s α to raise intracellular cAMP in their target cells. Therefore, in addition to PTH resistance, patients affected by this disorder present frequently with resistance to thyroid-stimulating hormone (TSH), growth hormone-releasing hormone, calcitonin, or other hormones that mediate their actions through G s α-coupled receptors [1,2,3,4,5,6]. …”

Section: Figmentioning

confidence: 99%

“…By contrast, broad GNAS methylation changes are observed in most patients affected by sporPHP1B who show loss of methylation at the DMRs for exons A/B, XL, and AS, and a gain of methylation at the DMR of exon NESP [15]. A considerable number of PHP1B and PHP1A patients therefore display detectable abnormalities in other endocrine systems [1,2,3,4,5,6,16,17]. …”

Section: Figmentioning

confidence: 99%

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Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism

Picard¹,

Decrequy²,

Guénet

et al. 2015

Horm Res Paediatr

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Hypothyroidism is a particular condition observed in pseudohypoparathyroidism (PHP), a rare disorder characterized by parathyroid (PTH) resistance leading to hypocalcemia and hyperphosphatemia associated with a GNAS (guanine nucleotide-binding protein α-subunit) mutation (PHP1A) or epimutation (PHP1B). To determine the presence of hypothyroidism at birth we conducted a retrospective study in our cohort of patients presenting with either PHP1A (n = 116) or PHP1B (n = 99). We also investigated patients presenting at birth with congenital hypothyroidism (CH) and a eutopic thyroid gland for phosphocalcium abnormalities suggesting PTH resistance and PHP. Our study reveals CH as the earliest diagnostic clue for PHP1A, but not for PHP1B. We estimated the frequency of CH at birth to be between 8 and 34% in patients presenting with PHP1A. The elevation of phosphatemia and PTH concentration precedes hypocalcemia in PHP1A. Conversely, the frequency of PHP1A in patients presenting CH is dramatically low. This may be due to the low prevalence of PHP1A which remains unknown. Conclusions: Subclinical and overt hypothyroidism can occur in PHP1A patients at birth many years before PTH resistance becomes clinically apparent. Although such cases appear to be rare, some pediatric patients with unexplained CH are likely to benefit from measuring calcium, phosphorus, and PTH for extended periods of time.

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Multihormonal Resistance to Parathyroid Hormone, Thyroid Stimulating Hormone, and Other Hormonal and Neurosensory Stimuli in Patients with Pseudohypoparathyroidism

Cited by 16 publications

References 48 publications

Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH

Hypothyroidism in patients with pseudohypoparathyroidism type Ia: clinical evidence of resistance to TSH and TRH

Short Fourth and Fifth Metacarpals

Diagnosis and Management of Congenital Hypothyroidism Associated with Pseudohypoparathyroidism

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