RESUMEN
Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals.
RESUMEN
Recently, surgical intervention has gained increasing support in adolescents with extreme obesity. This study summarizes the analysis into the effect of laparoscopic adjustable gastric bands (LAGB) on cardiovascular risk factors in 14 extremely obese Portuguese adolescent patients. Data collected both pre- and postoperatively included age, gender, body mass index (BMI), percentage of excess weight loss, cardiovascular risk factors, and cardiovascular outcomes. Ten girls and four boys aged from 13.5 to 17.5 years underwent LABG. The mean preoperative weight and BMI were 127.4 kg and 46.1 kg/m(2), respectively. The average percentage of weight loss calculated was 32 % at 1 year, 38.8 % at 2 years, and 48.1 % at 3 years of follow-up. Simultaneously, blood pressure and insulin resistance index returned to normal, and there was an increase in high-density lipoprotein levels, 3 years after the LABG was fitted. LABG fitting is a safe and effective treatment strategy for the improvement of cardiovascular status following weight loss.