Publications by authors named "Leandra Steinmetz"

Article Synopsis
  • Rothmund-Thomson syndrome (RTS) is a rare genetic skin disorder characterized by poikiloderma and divided into two types based on genetic variations and symptoms.
  • A study of Brazilian individuals and European siblings with RTS revealed severe short stature, widespread poikiloderma, and congenital eye problems, linked to specific gene mutations affecting DNA repair.
  • The findings suggest a shared genetic background due to a founder effect and propose that the mutations may lead to distinct clinical characteristics, broadening the understanding of RTS symptoms.
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Background/aims: Obesity leads to increased risk of thromboembolic events in adults, but few studies have addressed the relationship between obesity and thrombogenic risk during childhood. The aim of this study was to evaluate the prothrombotic state of obese children in comparison with healthy children.

Methods: Thrombin generation, fibrinogen, and D-dimer levels, along with metabolic parameters, were measured in 72 prepubertal children, of which 47 were obese and 25 eutrophic.

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In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis.

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Background: Ovotesticular Difference of Sex Development (OT DSD) is a rare condition characterized by histologic demonstration of ovarian and testicular tissue in the same individual. Descriptions in literature usually do not include long term follow-up data.

Objectives: The aim of this study is to describe clinical, biochemical and histological findings, as well as long term outcomes (including onset and progression of puberty) in patients with OT DSD.

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Objective: The objective was to conduct clinical and metabolic evaluations of obese adolescents before and after laparoscopic sleeve gastrectomy (LSG) (up to 24 months).

Subjects And Methods: This was designed as a retrospective, descriptive series of cases study, conducted in Instituto da Criança, São Paulo, Brazil. Analysis of clinical and laboratory data from 22 obese adolescents between 14 and 19 years old submitted to LSG between 2007 and 2014.

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The International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years.

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Background: Follow-up visits of patients recovering from anorexia nervosa (AN) have shown that some patients do not resume menstrual cycles despite returning to the normal weight for their age and height.

Aim: To verify whether leptin, insulin-like growth factor 1 (IGF-1) or another hormonal marker could be a good predictor of the return of menses.

Patients And Methods: This prospective study included female adolescents diagnosed with AN or eating disorders not otherwise specified (EDNOS) and who were being treated in an ambulatory care unit during nutritional recovery.

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We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency.

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Objectives: To describe the presence of prostatic tissue in 46,XX patients with the classical form of congenital adrenal hyperplasia (CAH); to evaluate the sensitivity and specificity of prostatic specific antigen (PSA) measured in congenital adrenal hyperplasia patients with regard to the detection of prostatic tissue in pelvic MRI.

Methods: We studied 52 children and adolescents, 32 with the classical form of congenital adrenal hyperplasia, 10 boys and 10 girls without CAH. Pelvic MRI was performed in all patients to detect prostatic tissue.

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Objective: To report the experience regarding patients with steroid 5alpha-reductase type 2 deficiency from three different clinical services in Brazil.

Casuistic And Methods: Twenty five patients with clinical and hormonal features of 5alpha-reductase deficiency from 23 families (15 from Bahia, 7 from São Paulo and 1 from Minas Gerais) were included in this study. Clinical, hormonal and molecular data were evaluated.

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Aim: To evaluate anti-Müllerian hormone (AMH) levels in patients with clinical and molecular diagnosis of 5alpha-reductase 2 deficiency.

Patients And Methods: Data from 14 patients whose age ranged from 21 days to 29 years were analyzed according to age and pubertal stage. Sexual ambiguity was rated as Prader III in 11 patients.

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Objective: To look for technical simplification and economic efficiency in the treatment of pediatric diabetic ketoacidosis (DKA) with subcutaneous use of the fast-acting insulin analog (lispro) and compare its use with regular intravenous insulin treatment.

Research Design And Methods: In this controlled clinical trial from June 2001 to June 2003, we randomized 60 episodes of DKA with a blood glucose level > or = 16.6 mmol/l (300 mg/dl), venous pH <7.

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