[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis]. / Pubertad precoz periférica: disgenesia gonadal completa 46 XY.

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma.

9 Years after the first laparoscopic adjusted gastric banding (LAGB) in adolescents: the Portuguese experience.

INTRODUCTION: Children all over the world are increasingly becoming overweight and obese. The experience with adults has demonstrated that surgery is the only effective way of achieving sustained weight loss in obese patients. Simultaneously, it has been proposed that bariatric surgery in the adolescent period would be a more effective treatment for childhood-onset extreme obesity rather than delaying surgery for extremely obese youth until adulthood. Nevertheless, the optimal surgical option for both adults and adolescents has yet to be established. The aim of our study was to evaluate the results of 9 years of laparoscopic adjusted gastric banding (LAGB) performed in our hospital for obesity-associated comorbidities (OAC), weight loss and surgical morbidity. METHODS: A prospective study of all patients who underwent LAGB at our hospital between July 2001 and May 2010 was carried out. Patient selection was by a multidisciplinary team and based on the "IPEG Guideline for the Surgical Treatment of Extremely Obese Adolescents". Data were reviewed retrospectively. RESULTS: 14 patients underwent LAGB (10♀; 4♂; average age: 16 years). Preoperative BMI ranged between 41.4 and 54.6 kg/m (2). Prior to surgery, 8 different OACs were identified. 6 months later, 4 types of OAC had resolved completely and the other 4 had improved, and the improvement was maintained over time. The average excess weight (EW) loss increased from 25.7 to 48.2% at 6 and 36 months of follow-up, respectively (10 patients). At 60 and 106 months of follow-up it was 41.5% (5 patients) and 31.8% (1 patient), respectively. There were no complications arising from the surgery itself. Long-term complications were few and easily managed. CONCLUSIONS: LAGB seems to be a good option to treat obese adolescents, as it is a minimally invasive procedure that does not radically change the patient's anatomy and is associated with minimal morbidity. It leads to a sustained improvement/resolution of OAC, and although weight loss is not continuous, it is maintained over time.

Bilateral submandibulectomy for the treatment of drooling in children with neurological disability.

AIM OF THE STUDY: Drooling is common in children with neurological disabilities (ND), and constitutes an additional burden with many medical complications in an already socially disadvantaged patient. This study aims to evaluate the effectiveness of bilateral submandibulectomy (BS) to treat drooling with regard to the parental satisfaction grade, complications and recurrence of drooling in children with ND. PATIENTS/MATERIAL AND METHODS: A retrospective study was performed of all children with ND and drooling who underwent BS in our Department between January 1996 and November 2008. Data were taken from surgical records and patient files. Parental satisfaction was graded into four classes: A: 75-100% satisfaction (infrequent drooling, small amounts; absence of drooling); B: 50-75% satisfaction (occasional drooling, on and off all day; infrequent drooling, small amounts); C: 25-50% satisfaction (frequent drooling, but not profusely; occasional drooling, on and off all day); D: 0-25% satisfaction (constant drooling, always wet; frequent drooling, but not profusely). RESULTS: BS was performed in 85 patients (38% male; 62% female; median age, 9 years). 35 patients had to be excluded from our study because their medical records were unavailable. Only 3 out of the remaining 50 patients had recurrence. Parental satisfaction grade (PSG) was A in 26 cases (55.3%); B in 15 (31.9%); C in 3 (6.4%) and D in 3 (6.4%). The first follow-up was usually 1 week after surgery (median, 2 weeks). The incidence of post-surgery complications was 4% and all complications were minor. DISCUSSION/CONCLUSIONS: Assessment of the results achieved was subjective as it was not possible to quantify the amount of drooling precisely before/after surgery. Nevertheless, BS was found to be an easy and safe procedure as the low rate of complications demonstrates. It was also found to be an effective procedure; there were only 3 recurrences, and PSG in 87.2% of cases was either A or B, indicating a minimum improvement in drooling of 50%.

Testículos no palpables: experiencia del Hospital Central Especializado de Crianças Maria Pia / Nonpalpable testes: experience from the Hospital Central Especializado de Crianças Maria Pia

La incidencia de criptorquidia es del 1% en niños de 1 año de edad, siendo en el 20% de los casos el testículo no palpable. El objetivo de este trabajo fue estudiar la contribución de la cirugía mínimamente invasiva en el diagnóstico y tratamiento de estos pacientes. Los autores realizaron un estudio prospectivo, analítico y longitudinal durante el período de enero de 2001 a diciembre de 2004, englobando 89 niños portadores de 98 testículos no palpables sometidos a laparoscopia. Los autores analizaron los siguientes parámetros: localización del testículo no palpable, examen objetivo bajo anestesia general, ecografía inguinoescrotal, edad de la intervención, hallazgos laparoscópicos, tratamiento efectuado, resultados anatomopatológicos de las piezas extirpadas y seguimiento después de la cirugía (AU)

The incidence of cryptorchidism in children at age of 1 year is 1%, and 20% of these cases represent nonpalpable testes. The aim was to evaluate the use of minimal invasive surgery for the diagnosis and therapy of these patients. The authors made a prospective, analytical and longitudinal study from January 2001 through December 2004 in 89 consecutive boys undergoing laparoscopy for 98 impalpable testes. The following details were analyzed: examination under general anesthesia, ultrasound examination, age at surgery, findings at laparoscopy, operative procedure, results of the histology and follow up (AU)

[Nonpalpable testes: experience from the Hospital Central Especializado de Crianças Maria Pia]. / Testiculos no palpables: experiencia del Hospital Central Especializado de Crianças Maria Pia.

The incidence of cryptorchidism in children at age of 1 year is 1%, and 20% of these cases represent nonpalpable testes. The aim was to evaluate the use of minimal invasive surgery for the diagnosis and therapy of these patients. The authors made a prospective, analytical and longitudinal study from January 2001 through December 2004 in 89 consecutive boys undergoing laparoscopy for 98 impalpable testes. The following details were analyzed: examination under general anesthesia, ultrasound examination, age at surgery, findings at laparoscopy, operative procedure, results of the histology and follow up.