J Pediatr Endocrinol Metab
August 2025
Objectives: This study aims to characterize the clinical spectrum of pediatric adrenocortical tumors (P-ACTs) in individuals aged <20 years and to compare the distinguishing features of pediatric adrenocortical adenomas (P-ACAs) and carcinomas (P-ACCs).
Methods: This retrospective study consisted of P-ACT patients who presented to our institute over the past 24 years (2001-2024). They were categorized as P-ACC or P-ACA based on Wieneke score.
Objective: Germline TSHR activating mutation-associated hyperthyroidism (GTAMH) manifests as sporadic or familial forms. Studies have shown poor correlation between receptor activity and clinical manifestations, highlighting a knowledge gap in understanding genotype-phenotype relationships.
Design: A classification based on age of symptom onset: infantile (n = 36), childhood (n = 33) and adulthood (> 18 years, n = 13) was attempted by performing a systematic review of literature of GTAMH (n = 82 probands, including a 25-year-old woman with TSHR p.
Introduction: Differentiating pheochromocytomas from other adrenal masses based on computed tomography (CT) characteristics remains challenging, particularly in lipid-poor lesions with variable washout patterns. This study evaluated CT features for distinguishing pheochromocytomas in good and poor washout subcohorts.
Methods: We prospectively analyzed 72 patients with unilateral lipid-poor adrenal masses.
Purpose: Data on the polar vessel sign (enlarged feeding vessel terminating in parathyroid lesions) on four-dimensional computed tomography (4D-CT) is limited. We performed a retrospective analysis to determine the prevalence, predictors, and adjunctive utility of polar vessel sign in pre-operative 4D-CT of patients with primary hyperparathyroidism (PHPT).
Methods: One radiologist blinded to the patients' details reported the 4D-CT of eighty-four operated patients with histopathology-proven single-gland PHPT.
Ann Endocrinol (Paris)
December 2024
Objective: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. A systematic review of phenotype-genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype-genotype correlation.
View Article and Find Full Text PDFObjective: To describe the characteristics of gonadotropin-dependent precocious puberty (GDPP) in Indian children.
Methods: Clinical profiles of GDPP (n=78, 61 females) and premature thelarche (n=12) from a single center in Western India were retrospectively studied.
Results: Pubertal onset was earlier in boys than girls (29 vs 75 months, respec-tively; P=0.
Ann Endocrinol (Paris)
February 2023
Objective: The long-term renal consequences of curative parathyroidectomy (PTX) in symptomatic primary hyperparathyroidism (sPHPT) are not well characterized. We aimed to assess renal glomerular and tubular functions in an sPHPT cohort at ≥1 year's follow-up.
Design: Retrospective-prospective study.
Clin Endocrinol (Oxf)
March 2023
Objective: P450 side-chain cleavage deficiency (SCCD) patients present with primary adrenal insufficiency (PAI) with or without undervirilized external genitalia. The distinction between classic and nonclassic steroidogenic acute regulatory protein deficiency has been described, whereas in SCCD is unclear. The data on gonadal function and its correlation with SCCD genotype has not been studied.
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