Co-occurrence of Noonan and Cardiofaciocutaneous Syndrome Features in a Patient with Variant.

We report the case of a 3-year-old girl, who is the third child of nonconsanguineous parents, with short stature, hypertrophic cardiomyopathy, and mild dysmorphic features; all suggestive of Noonan syndrome. In addition, the patient presents with feeding difficulties, deep palmar and plantar creases, sparse hair, and delayed psychomotor and language development, all characteristics frequently observed in cardiofaciocutaneous syndrome. Molecular analysis of the Ras/ MAPK pathway genes using high-resolution melting curve analysis and gene sequencing revealed a de novo amino acid substitution of leucine to tryptophan at codon 53 (p.

Is There a Difference between Ultrasonographic (US) Uterine Changes of Oral Versus Transdermal (TD) 17β Estradiol (17β E2) in Girls with Turner Syndrome (TS)? Own Experience and Literature Review.

Background: Among patients with Turner Syndrome (TS), premature ovarian failure is a main feature. Recently published consensus guidelines recommend that transdermal (TD) estradiol is the preferred route for estrogen replacement. Studies related to ultrasound (US) measurements during estrogen replacement in TS patients using estradiol (17β E2) and correlating uterine growth with estrogen metabolites are limited.

Study of Ras/MAPK pathway gene variants in Chilean patients with Cryptorchidism.

Cryptorchidism is one of the most common congenital disorders in boys, and several genetic, hormonal, and environmental factors have been proposed as possible causes for this genitourinary defect. Genetic factors have been intensively searched, but relatively few pathogenic variants have been described. Cryptorchidism is a frequent finding in patients with RASopathies, a group of syndrome caused by mutations in genes of the Ras/MAPK pathway.

Copy number variants of Ras/MAPK pathway genes in patients with isolated cryptorchidism.

Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism.

Factors associated with post-menarcheal growth: results of a longitudinal study in Chilean girls from different socioeconomic statuses.

Background: Menarche is the last stage of pubertal development, which coincides, with the completion of longitudinal growth. Our aim was to evaluate, post-menarcheal growth and clinical variables proposed to be associated with this growth.

Methods: In a prospective fashion, 106 healthy girls attending five different socioeconomic status (SES) schools of Santiago were randomly recruited.

Is there a link between influenza and type I diabetes? Increased incidence of TID during the pandemic H1N1 influenza of 2009 in Chile.

Unlabelled: Pandemic H1N1 2009 had the highest incidence in the middle-high income area of Santiago and affected mostly school age patients. Influenza A virus (IAVs) causes systemic and most commonly non-systemic infection. Interestingly, it is able to replicate only in the presence of trypsin-like enzymes, as lung and pancreas.

Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.

Background: Noonan syndrome (NS) is an autosomal dominant syndrome characterized by typical dysmorphic features, cardiac anomalies as well as postnatal growth retardation, and is associated with Ras-MAPK pathway gene mutations. The purpose of this study was to improve the diagnosis of Chilean patients with suspected NS through molecular analysis.

Methods: We screened 18 Chilean patients with a clinical diagnosis of NS for mutations in PTPN11 by high resolution melting (HRM) and subsequent sequencing.

Effect of the parental origin of the X-chromosome on the clinical features, associated complications, the two-year-response to growth hormone (rhGH) and the biochemical profile in patients with turner syndrome.

Background: It is possible that genes on the X chromosome are expressed differently depending of its parental origin. The objective of this study was to determine the influence of the parental origin of the X-chromosome on phenotypic variability, response to rhGH and on the biochemical profile of TS patients.

Methods: This was a cross-sectional multicenter correlational study carried out over three years in six Latin-American university hospitals.

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

Aim: Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis.

Methods: Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex ligation-dependent probe amplification to detect deletions and duplications of SHOX and its enhancer regions.

Metabolic effects of oral versus transdermal 17β-estradiol (E₂): a randomized clinical trial in girls with Turner syndrome.

Context: The long-term effects of pure 17β-estradiol (E₂) depending on route of administration have not been well characterized.

Objective: Our objective was to assess metabolic effects of oral vs transdermal (TD) 17β-E₂ replacement using estrogen concentration-based dosing in girls with Turner syndrome (TS).

Patients: Forty girls with TS, mean age 16.

A prospective cohort study of the prevalence of growth, facial, and central nervous system abnormalities in children with heavy prenatal alcohol exposure.

Background: Most children who are exposed to large quantities of alcohol in utero do not develop fetal alcohol syndrome (FAS). Population-based prospective data on the risk of developing components of fetal alcohol spectrum disorders (FASD), however, are limited.

Methods: This was a prospective cohort study of 9,628 women screened during their first prenatal appointment in Chile, which identified 101 who consumed at least 4 drinks/d (exposed) matched with 101 women with no reported alcohol consumption during pregnancy (unexposed).

Syndrome-specific growth charts for 22q11.2 deletion syndrome in Caucasian children.

Growth faltering occurs frequently in infancy in the 22q11 Deletion syndrome (22q11 DS). The subsequent course of growth in childhood and outcome for final adult height lacks consensus. We analyzed 5,149 growth data points from 812 Caucasian subjects with 22q11 DS, from neonates to 37 years old.

[Viral respiratory co-infections in pediatric patients admitted for acute respiratory infection and their impact on clinical severity].

Introduction: Respiratory viruses are the leading cause of acute respiratory tract infection (ARI) in children. It has been reported that viral respiratory co-infection could be associated with severe clinical course.

Objectives: To describe the frequency of viral co-infection in children admitted for AlRI and evaluate whether this co-infection was associated with more severe clinical course.

Menstrual cycle irregularities and their relationship with HbA1c and insulin dose in adolescents with type 1 diabetes mellitus.

Objective: To evaluate the prevalence and risk factors of menstrual cycle irregularities in adolescents with type 1 diabetes mellitus.

Design: Prospective diary of menstrual cycle.

Setting: Pediatric diabetes clinics and nearby schools.

Comparison of three doses of leuprolide acetate in the treatment of central precocious puberty: preliminary results.

Objective: Depot luteinizing-hormone releasing hormone (LHRH) agonist have been widely used for the treatment of central precocious puberty (CPP), but the optimal doses to obtain hormonal suppression are still unknown, especially in patients with higher weights. The goal of our study was to compare the efficacy of three leuprolide acetate (LA) preparations, suppressing gonadotropin secretion in patients with CPP.

Design: In an open 12-month protocol, we evaluated LA 7.

[Congenital hypopituitarism: report of 23 cases].

Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency It is less common than growth hormone deficiency which has an incidence of 1:4.000 to 1:8.000 live newborns.

[Age of menarche and its relationship with body mass index and socioeconomic status].

Background: A decline in the age of menarche was observed from early 1900s to the 1970s. However, it is not known if a further decline occurred thereafter.

Aim: To evaluate the age of menarche in girls from Santiago, Chile and its relationship with body mass index (BMI) and socioeconomic status.

Adrenarche in Prader-Willi syndrome appears not related to insulin sensitivity and serum adiponectin.

Prader-Willi syndrome (PWS) is a genetic disorder characterized by dysmorphic features, obesity, hypogonadism, hypotonia and mental retardation. Obesity has been linked to insulin resistance and the latter has also been associated with premature adrenarche. Since up to date a controlled study to investigate adrenarche and its hormonal regulation was lacking in PWS, our aim was to assess whether prepubertal PWS patients develop premature adrenarche and its relationship with markers of insulin sensitivity.

Ovarian function during puberty in girls with type 1 diabetes mellitus: response to leuprolide.

Context: An increased prevalence of polycystic ovary syndrome (PCOS) has been reported in adult women with type 1 diabetes mellitus (DM1). We investigated whether these hormonal abnormalities begin during puberty by evaluating the ovarian steroidogenic response to leuprolide acetate.

Methods: We studied 56 adolescent girls with DM1 (aged 12.

Ponderal gain, waist-to-hip ratio, and pubertal development in girls with type-1 diabetes mellitus.

Objectives: We assessed pubertal development, height, weight, and waist-to-hip ratio (WHR), an index of central adiposity during puberty, in girls with type-1 diabetes mellitus (T1DM), compared to a contemporary control group.

Methods: Pubertal development, weight, height and WHR were studied in 100 pubertal girls with T1DM, and were compared to a control group of 576 normal girls (C), recruited from schools with a similar socioeconomic level and ethnicity. The age of onset of various pubertal stages was estimated by using probit analysis.

[Age of pubertal events in Chilean school age girls and its relationship with socioeconomic status and body mass index].

Background: Recent studies in the United States have demonstrated that a significant proportion of girls show thelarche before the age of eight years. Nutritional status, geographic influences and racial factors are known to affect the timing of puberty.

Aim: To evaluate the age of onset of puberty, development of secondary sexual characteristics and menarche in Chilean girls, and its relation to obesity and socioeconomic status.