Genotype–Phenotype Correlations in Asian Indian Children and Adolescents with Primary Hyperparathyroidism

Sharma, Anima; Memon, Saba Samad; Lila, Anurag; Sarathi, Vijaya; Arya, Sneha; Jadhav, Swati; Hira, Priya; Garale, Mahadeo; Gosavi, Vikrant; Karlekar, Manjiri; Patil, Virendra; Bandgar, Tushar

doi:10.1007/s00223-022-00985-x

Cited by 5 publications

(13 citation statements)

References 45 publications

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“…The admissions of the patients within the mentioned study designs occurred between 1989 and 2021 (different timeframe combinations). The mean ages of the patients were as follows: 10.2 (the lowest mean value) in some studies, and around 14 years (for example, 14, 14.1, 14.7, and 15.2 years) in other studies and case reports, as well as around the age of 17 (for instance, 16.7, 17, and 17.3) in case series [5,18,[26][27][28][45][46][47][48][49][50][51][52]. We exceptionally included four studies that applied a (maximum) cutoff age of 20-21 (rather than 18), but for which the average and median ages of the entire studied populations were below 18 [5,26,27,52].…”

Section: Trans-pandemic Insights Into Paediatric Phpmentioning

confidence: 89%

“…Of the subjects from the first group, 90% mainly carried MEN1 and CDC73 pathogenic variants, while, notably, 26.9% of the second group harbored pathogenic variants such as CDC73 and CASR. The "genetic" group was more frequently asymptomatic, while renal complications had the highest prevalence among other involvements within second group (71%) [26]. These two studies [26,27] pointed out the importance of genetic awareness in pediatric PHP despite negative family history, noting that 5-29% of the children that were initially considered sporadic cases actually harbored a pathogenic variant [26,27].…”

Section: Genetic Considerationsmentioning

confidence: 96%

“…The clinical elements may be acute (with recent onset), or there may be a history of a few months or even years of various complications, including impairment in achieving normal growth and pubertal development in severe cases; some authors consider the clinical picture to be more severe than that seen in adults: children with genetic PHP who come from families with a known mutation may be the subjects of surveillance programs; thus, the clinical picture may be deficient [24,26]. One study from 2022, on 66 pediatric patients with sporadic and familial PHP with a mean age of 17 years (studied between 1994 and 2020), showed that the clinical presentations were suggestive for the diagnosis of PHP in 71% of the subjects (symptomatic PHP) [27].…”

Section: Clinical Presentationmentioning

confidence: 99%

“…The study also provided insightful information concerning the presentations and outcomes in sporadic vs. familial PHP; for instance, the rates of single-parathyroid-gland involvement were 85% vs. 19%, respectively; postoperative recurrent PHP was identified in 2% vs. 38% of patients, respectively, with a time to recurrence higher in sporadic PHP [27]. Similarly, genetic/familial PHP vs. apparently sporadic PHP was studied in a single-center analysis, published in 2022 by Sharma et al [26] (N = 36 Asian/Indian patients younger than 20 years; 55% were males; the median age was 17 years). Of the subjects from the first group, 90% mainly carried MEN1 and CDC73 pathogenic variants, while, notably, 26.9% of the second group harbored pathogenic variants such as CDC73 and CASR.…”

Section: Genetic Considerationsmentioning

confidence: 99%

“…Case reports and series (<10 patients/article) with data concerning genetic profiling in pediatric PHP, according to our methods (the list starts with the most recent publication date) [17,53,61,62,64,65,67]; additional studies (≥10 patients/study) that also include genetic analysis are introduced in Table 2. Data were provided by Sharma [26,46], Szabo Yamashita [27], Bernardor [18], Ramonell [47], Shariq [49], El Allali [50], Sharanappa [28].…”

Section: Genetic Considerationsmentioning

confidence: 99%

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Pediatric Neuroendocrine Neoplasia of the Parathyroid Glands: Delving into Primary Hyperparathyroidism

Carsote,

Stanciu,

Popa

et al. 2023

Biomedicines

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Our objective was to overview the most recent data on primary hyperparathyroidism (PHP) in children and teenagers from a multidisciplinary perspective. Methods: narrative review based on full-length, English-language papers (from PubMed, between January 2020 and July 2023). Results: 48 papers (14 studies of ≥10 subjects/study, and 34 case reports/series of <10 patients/study). Study-sample-based analysis: except for one case–control study, all of the studies were retrospective, representing both multicenter (n = 5) and single-center (n = 7) studies, and cohort sizes varied from small (N = 10 to 19), to medium-sized (N = 23 to 36) and large (N = 63 to 83); in total, the reviewed studies covered 493 individuals with PHP. Case reports/series (n = 34, N = 41): the mean ages studied varied from 10.2 to 14 years in case reports, and the mean age was 17 years in case series. No clear female predominance was identified, unlike that observed in the adult population. Concerning the assessments, there were four major types of endpoints: imaging data collection, such as ultrasound, 99mTc Sestamibi, or dual-phase computed tomography (CT); gene testing/familial syndrome identification; preoperative findings; and exposure to surgical outcome/preoperative drugs, like cinacalcet, over a 2.2-year median (plus two case reports of denosumab used as an off-label calcium-lowering agent). Single-gland cases (representing 85% of sporadic cases and 19% of genetic PHP cases) showed 100% sensitivity for neck ultrasounds, with 98% concordance with 99mTc Sestamibi, as well as a 91% sensitivity for dual-phase CT, with 25% of the lesions being ectopic parathyroids (mostly mediastinal intra-thymic). Case reports included another 9/41 patients with ectopic parathyroid adenomas, 3/41 with parathyroid carcinomas, and 8/41 subjects with brown tumors. Genetic PHP (which has a prevalence of 5–26.9%) mostly involved MEN1, followed by CDC73, CASR, RET, and CDKN1B, as well as one case of VHL. Symptomatic PHP: 70–100% of all cases. Asymptomatic PHP: 60% of genetic PHP cases. Renal involvement: 10.5% of a cohort with genetic PHP, 71% of sporadic PHP cases; 50% (in a cohort with a mean age of 16.7), 29% (in a cohort with a mean age of 15.2); 0% (in infancy) to 50–62% (in teenagers). Bone anomalies: 83% of the children in one study and 62% of those in two other studies. Gastrointestinal issues: 40% of one cohort, but the data are heterogeneous. Cure rate through parathyroidectomy: 97–98%. Recurrent PHP: 2% of sporadic PHP cases and 38% of familial PHP cases. Hungry bone syndrome: maximum rate of 34–40%. Case reports identified another 7/41 subjects with the same post-parathyroidectomy condition; a potential connection with ectopic presentation or brown tumors is suggested, but there are limited data. Minimally invasive thoracoscopic approaches for ectopic tumors seemed safe. The current level of statistical evidence on pediatric PHP qualifies our study- and case-sample-based analysis (n = 48, N = 534) as one of the largest of its kind. Awareness of PHP is the key factor to benefit our young patients.

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