Clinical and radiological findings in a case of pseudohypoparathyroidism type 1a: Albright hereditary osteodystrophy

Sanz-Fernández, M.; Muñoz-Calvo, M.T.; Pozo‐Román, Jesús; Martos‐Moreno, Gabriel Ángel; Argente, Jesús

doi:10.1016/j.anpede.2015.05.015

Cited by 3 publications

(3 citation statements)

References 6 publications

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“…A small percentage of obesity occurs as part of a syndromic entity [4][5][6][7][8][9][10], but in the majority, obesity is not accompanied by other specific phenotypes. Highly penetrant rare genetic variants, mainly autosomal recessive, affecting at least eight genes [LEP (MIM 164160), LEPR (MIM 601007), MC4R (MIM 155541), PCSK1 (MIM 162150), POMC (MIM 176830), MC3R (MIM 155540), SIM1 (MIM 603128) or NTRK2 (MIM600456)] are reportedly found in 2-5% of non-syndromic obese patients [11][12][13][14][15][16][17].…”

Section: Introductionmentioning

confidence: 99%

Heterozygous rare genetic variants in non-syndromic early-onset obesity

et al. 2019

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Background Obesity is a very heterogeneous disorder at both the clinical and molecular levels and with high heritability. Several monogenic forms and genes with strong effects have been identified for non-syndromic severe obesity. Novel therapeutic interventions are in development for some genetic forms, emphasizing the importance of determining genetic contributions. Objective We aimed to define the contribution of rare single-nucleotide genetic variants (RSVs) in candidate genes to nonsyndromic severe early-onset obesity (EOO; body mass index (BMI) >+3 standard deviation score, <3 years). Methods Using a pooled DNA-sequencing approach, we screened for RSVs in 15 obesity candidate genes in a series of 463 EOO patients and 480 controls. We also analysed exome data from 293 EOO patients from the "Viva la Familia" (VLF) study as a replication dataset. Results Likely or known pathogenic RSVs were identified in 23 patients (5.0%), with 7 of the 15 genes (BDNF, FTO, MC3R, MC4R, NEGR1, PPARG and SIM1) harbouring RSVs only in cases (3.67%) and none in controls. All were heterozygous changes, either de novo (one in BDNF) or inherited from obese parents (seven maternal, three paternal), and no individual carried more than one variant. Results were replicated in the VLF study, where 4.10% of probands carried RSVs in the overrepresented genes. RSVs in five genes were either absent (LEP) or more common in controls than in cases (ADRB3, LEPR, PCSK1 and PCSK2) in both obese datasets. Conclusions Heterozygous RSVs in several candidate genes of the melanocortin pathway are found in~5.0% patients with EOO. These results support the clinical utility of genetic testing to identify patients who might benefit from targeted therapeutic intervention.

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Section: Introductionmentioning

confidence: 99%

Heterozygous rare genetic variants in non-syndromic early-onset obesity

et al. 2019

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“…In PHP Ic, patients clinically mimic PHP Ia, but no Gs protein defect is found (7). Diagnosis is often made when the patient develops symptoms due to hypocalcemia, usually during periods of rapid growth, which may or may not be associated with vitamin D deficiency (8).…”

Section: Discussionmentioning

confidence: 99%

“…IGF-1 levels were normal, but in the lower limit of the normal range (70 ng/ mL, NR 49-231ng/mL). Finally, resistance to PTH usually develops during childhood (8).…”

Section: Discussionmentioning

confidence: 99%

Hypocalcemia – a Diagnostic Challenge

Gomes

Azevedo

Marinhas

et al. 2023

CEJP

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Objective − The authors aimed to describe a case of a rare etiology of hypocalcemia in a child, and highlight the importance of clinical suspicion for prompt diagnosis of calcium disturbances.Case Report − The 5-year-old male child did not have any symptoms up to 4 days prior to presentation, but fever and a rash, followed by acute onset of seizures prompted presentation to the pediatric emergency department. Clinical records revealed that he had been found to have left hand lesions, global developmental delay, and height below the 3th percentile in a previous assessment. The combination of severe hypocalcemia, hyperphosphatemia, increased PTH levels, and identification of a mutation on a GNAS genetic test, confirmed the diagnosis of type Ia pseudohypoparathyroidism (PHP Ia).Conclusion − In this case report, the combination of clinical and biochemical findings led to the diagnosis. Hence, it is important to consider the many possible etiologies of seizures and hypocalcemia, taking into account the clues provided by clinical history and physical examination.

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Albright hereditary osteodystrophy

Luong¹,

Weerakkody²

2020

Radiopaedia.org

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Clinical and radiological findings in a case of pseudohypoparathyroidism type 1a: Albright hereditary osteodystrophy

Cited by 3 publications

References 6 publications

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Hypocalcemia – a Diagnostic Challenge

Albright hereditary osteodystrophy

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