The Unique Role of 11-Oxygenated C19 Steroids in Both Premature Adrenarche and Premature Pubarche
Conclusions: PA and PP differ only by DHEAS and not by 11oAs or insulin sensitivity, consistent with 11oAs – rather than DHEAS – mediating the phenotypic changes of pubarche. Case correlations suggest association of 11oAs with T and A4. These data are the first to report the early morning steroid profiles including 11oAs in a well-defined group of PA, PP, and healthy children.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - February 2, 2021 Category: Endocrinology Source Type: research
Outcomes of Zoledronic Acid Use in Paediatric Conditions
Conclusion: This is the largest cohort of reported outcomes of ZA use in a paediatric population. Results demonstrate a good efficacy profile and associated improved bone density for osteoporotic conditions and stabilization of non-traumatic AVN with a low rate of joint collapse.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 28, 2021 Category: Endocrinology Source Type: research
Immunological Profile and Autoimmunity in Turner Syndrome
Turner syndrome (TS), characterized by the partial or complete absence of an X-chromosome, provides a unique insight into the role of the X-chromosome and the immune system. While women have a 10-fold higher incidence of autoimmune disease (AD) compared with men, the risk in women with TS is thought to be further doubled. TS is associated with a propensity for a wide variety of ADs that increase in incidence across the life span. Isochromosome Xq as well as isolated Xp deletion karyotypes may predispose to higher rates of AD in TS suggesting the impact of X-chromosome gene dosage. It is likely, however, that epigenetic cha...
Source: Hormone Research in Paediatrics - January 27, 2021 Category: Endocrinology Source Type: research
Clinical Characteristics, Molecular Features, and Long-Term Follow-Up of 15 Patients with Neonatal Diabetes: A Single-Centre Experience
Conclusion: Although the number of individuals born to consanguineous parents was considerably high in this cohort, KATP channel mutations (ABCC8/KCNJ11) were more common thanEIF2AK3 mutations (n = 6 vs.n = 1). Genetic analyses should be performed in all NDM cases due to the potential impact on treatment and prognosis.Horm Res Paediatr (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 26, 2021 Category: Endocrinology Source Type: research
Preliminary Pages
Horm Res Paediatr 2020;93:I –XI (Source: Hormone Research in Paediatrics)
Source: Hormone Research in Paediatrics - January 26, 2021 Category: Endocrinology Source Type: research
