Puberty Today, Gone Tomorrow: Transient Refractory Central Precocious Puberty in a Toddler with End-Stage Kidney Disease.

Unlabelled: Novel Insights: - There are only three reported cases of precocious puberty in boys with CKD - Hypothalamic dysfunction due to uremia, and disordered renal clearance of LH, may lead to central precocious puberty, which resolves after uremia is corrected, e.g., after kidney transplant.

Early anthropometric indicators of type 2 diabetes mellitus.

Purpose Of Review: With the rapidly increasing incidence of type 2 diabetes mellitus (T2DM) in youth (as in adults), it is critical to recognize phenotypic markers that can help predict and potentially prevent its onset, and reduce the associated burden of the disease for patients, families, and society. In this review, we summarize the most recent literature characterizing growth, puberty, and body composition in youth at risk for or who have T2DM.

Recent Findings: There is an inverse, nonlinear relationship between birth weight and future risk of developing T2DM.

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.

Context: Genetic variants in SLC16A2, encoding the thyroid hormone transporter MCT8, can cause intellectual and motor disability and abnormal serum thyroid function tests, known as MCT8 deficiency. The C-terminal domain of MCT8 is poorly conserved, which complicates prediction of the deleteriousness of variants in this region. We studied the functional consequences of 5 novel variants within this domain and their relation to the clinical phenotypes.

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.

Background: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency.

Methods: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally.