Endocrine Abstracts

: Sebaceous glands are very sensitive to androgens which can modify the size but not the number of sebaceous glands. Sebaceous hyperplasia is a common benign proliferation of the sebaceous glands seen during the first weeks of life, being reported in 89.4% of 1000 newborns enrolled in across-sectional prospective study in the period of November 2007 to May 2009 in India [1] or in 35% of 2938 neonates aged up to three days of life hospitalized in a Brazilian city [2]. Sebum sec...

Introduction: Recently, a microduplication of 15q26.3 not including IGF1R was reported in subjects of two families with overgrowth and variable intellectual disability (Leffler M. et al., Eur J Med Gen, 2016).Aim: To report the clinical findings in a third case with overgrowth related to a small microduplication of 15q26.3 not including the IGF1R region.Methods: Comparative genome hybridization was done using an A...

Introduction: 48, XXYY is a rare sex chromosome aneuploidy, being estimated to occur in 1:18000–1:40000 male births. Phenotypically it was considered a variant of Klinefelter syndrome (47,XXY), but currently, due to mental deficiency and behavioural characteristics associated, it’s considered to be a separated genetic condition.Case report: We report a case of a 8-year-old boy, first child of a young non-consanguineous couple, born at term. Due...

: Autoimmune polyglandular syndrome (APS) type 3 – is a rare orphan disease, which is a combination of autoimmune thyroid disease and diabetes mellitus (DM) type 1 and/or pernicious anemia, vitiligo, alopecia. Due to the rare occurrence in pediatric patients we give our own observation of early manifestation of APS type 3 A in a girl 10 years. Complaints in the primary treatment: sweating, irritability, cardiopalmus, weight loss. Survey results: ultrasound examination of ...

: X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by a defect in the vasopressin V2 receptor in renal collecting duct cells which is encoded by the AVPR2 gene (Xq28). More than 200 mutations have been found comprising missense, nonsense, small insertions and deletions, large deletions and complex rearrangements in AVPR2 gene to date. In this study, a 6-year-old boy was referred to the Pediatric Nephrology Department of Kecioren Research...

Introduction: Asparaginase is a component of chemotherapy regimens used to treat paediatric acute lymphoblastic leukaemia (ALL). One of its well-known side effects is hyperglycaemia which is probably related to hypoinsulinemia. Its incidence rises significantly when associated with corticotherapy. We present two cases of diabetes related to asparaginase and corticoid administration.Case 1: Eleven-year-old girl diagnosed with an ALL. Before treatment she ...

Aim: Procollagen type III N-terminal peptide (P3NP) occurs during type III collagen synthesis. Previous studies about the GH misuse in athletes proved the P3NP as a growth hormone (GH) responsive biomarker. We evaluate the P3NP levels and correlate with IGF1 depending on GH status.Subjects and Methods: We determined P3NP levels in 81 prepubertal children (35 girls) with a mean age of 6.2 y.o [3.37–9.95]. The group consists of 37 subjects with normal...

Introduction: Turner syndrome is one of the most common human chromosomopathy and represents an important cause of short stature and ovarian insufficiency. It is caused by total or partial loss of X-chromosome and its prevalence is about 1 in 2000–2500 live female births.Objectives: To review the patients with TS followed in a Paediatric Endocrinology Unit since 1999.Methods: A retrospective study regarding diagnosis, course, ...