Consensus guide on prophylactic gonadectomy in different sex development.

The risk of suffering from gonadal germ cell tumors (GCT) is increased in some patients with different sexual development (DSD), mainly in those with Y chromosome material. This risk, however, varies considerably depending on a multitude of factors that make the decision for prophylactic gonadectomy extremely difficult. In order to make informed recommendations on the convenience of this procedure in cases where there is potential for malignancy, this consensus guide evaluates the latest clinical evidence, which is generally low, and updates the existing knowledge in this field.

Achondroplasia: Update on diagnosis, follow-up and treatment.

Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021).

Thyroid Function in 509 Premature Newborns Below 31 Weeks of Gestational Age: Evaluation and Follow-up.

Objective: Preterm and low birth weight (LBW) neonates may present with thyroid dysfunction during a critical period for neurodevelopment. These alterations can be missed on routine congenital hypothyroidism (CH) screening which only measures thyroid stimulating hormone (TSH). The objective of this study was to evaluate a protocol for thyroid function screening (TFS) six years after national implementation.

Clinical practice guidelines for transsexual, transgender and gender diverse minors.

Some people, including minors, have a gender identity that does not correspond to the sex assigned at birth. They are known as trans* people, which is an umbrella term that encompasses transgender, transsexual, and other identities not conforming to the assigned gender. Healthcare units for trans* minors require multidisciplinary working, undertaken by personnel expert in gender identity, enabling, when requested, interventions for the minor and their social-familial environment, in an individualized and flexible way during the gender affirmation path.

Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings.

Introduction: Thyroid nodule (TN) harbouring a thyroid carcinoma are more common in paediatric than adult patients. In paediatric population, the evaluation of a TN should require specific paediatric tools for its diagnostic and therapeutic management. High-resolution ultrasonography and cytological evaluation after fine-needle aspiration biopsy (FNAB) remain the cornerstones of evaluation of TN.

Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile.

Unlabelled: A wide variation in height gain rate is observed in children small for gestational age (SGA) treated with growth hormone (GH). The aim of this study was to evaluate prepubertal and pubertal growth, height gain attained at adult age and to assess potential predictive factors in catch-up growth. Changes in metabolic profile were also analyzed.

Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile.

Unlabelled: A wide variation in height gain rate is observed in children small for gestational age (SGA) treated with growth hormone (GH). The aim of this study was to evaluate prepubertal and pubertal growth, height gain attained at adult age and to assess potential predictive factors in catch-up growth. Changes in metabolic profile were also analyzed.

Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings.

Introduction: Thyroid nodule (TN) harboring a thyroid carcinoma are more common in pediatric than adult patients. In pediatric population, the evaluation of a TN should require specific pediatric tools for its diagnostic and therapeutic management. High-resolution ultrasonography and cytological evaluation after fine-needle aspiration biopsy (FNAB) remain the cornerstones of evaluation of TN.

[50 years of the Neonatal Screening Program in Catalonia.].

The Catalonian Newborn Screening Program (CNSP) began in 1969, in Barcelona. It was promoted by Dr. Juan Sabater Tobella and supported by Barcelona Provincial Council and Juan March Foundation.

Adherence and long-term outcomes of growth hormone therapy with easypod™ in pediatric subjects: Spanish ECOS study.

Background: Non-adherence to r-hGH treatments occurs in a variable percentage of subjects. One problem found when evaluating adherence is the great variability in methods of detection and definitions utilized in studies. This study assessed the level of adherence in subjects receiving r-hGH with the easypod™ electronic device.

[Management guidelines for disorders / different sex development (DSD)].

Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype.

Oral glucose tolerance test and continuous glucose monitoring to assess diabetes development in cystic fibrosis patients.

Introduction: Patients with cystic fibrosis (CF) undergo a slow and progressive process toward diabetes. Oral glucose tolerance test (OGTT) is recommended to diagnose impaired glucose levels in these patients. Continuous glucose monitoring (CGM) measures glucose profiles under real-life conditions.

[Plasma 25-OH Vitamin D Concentrations in Cord Blood after Summer Months, Spain].

Objective: Plasma vitamin D (25(OH)D) levels in the newborn are dependent on maternal stores. Several studies showing a high prevalence of vitamin D deficiency in pregnant women have been published last years. The aim of the study was to analyze 25(OH)D levels in cord blood after summer month, determine whether there is a relation with different variables.

Initial Approach to Childhood Obesity in Spain. A Multisociety Expert Panel Assessment.

Purpose: In recent years, the incidence of childhood obesity in Europe, and Spain in particular, has increased dramatically. Bariatric surgery could play a major role in treating of adolescents with severe obesity. However, no specific guidelines for bariatric surgery currently exist in Spain.

[Sociodemographic Factors Related to Plasma Concentrations of 25-OH Vitamin D and PTH in Cord Blood].

Background: Plasma 25(OH)D levels in the newborn are dependent on maternal stores, thus, neonates of vitamin D-deficient mothers present a greater risk of hypocalcaemia, rickets and infections the first year of life. Several studies showing a high prevalence of vitamin D deficiency in pregnant women have been published recently. The aim of the study is to analyze the levels of 25(OH)D in cord blood and determine whether there is a relation with nutritional, socioeconomic and clinical factors of pregnant women and their newborns.

Factors affecting catch-up growth after liver transplantation.

Background: The reported incidence of catch-up growth following orthotopic liver transplantation (OLT) ranges widely, from 0% to 97%.

Objective: We undertook bivariate analysis of multiple factors that might affect post-OLT growth in children undergoing OLT, and described the results with different parameters used to determine catch-up growth.

Methods: Eighty patients met the inclusion criteria.