[Triptorelin therapy in girls with central precocious puberty increases body mass index]. / El tratamiento con triptorelina en las niñas con pubertad precoz central provoca incremento del índice de masa corporal.

INTRODUCTION: The most important complications of central precocious puberty (CPP) in girls are loss of height and multiple psychosocial problems. OBJECTIVES: To study the effect of triptorelin therapy in a cohort of girls with CPP. PATIENTS AND METHODS: Thirty-four girls diagnosed with organic or idiopathic CPP and treated with monthly triptorelin were studied. Age, height in standard deviation (SD), bone age (Greulich and Pyle), height prediction (Bayle-Pinneau), body mass index (BMI) in SD, uterine size (pelvic ultrasound), target height, cranial magnetic resonance imaging, triptorelin dose, and treatment duration were studied. RESULTS: Triptorelin produced a statistically significant reduction in growth velocity and an increase in BMI after 1 year of therapy and these changes were maintained after discontinuation of therapy. Adult height in these patients was in accordance with their target genetic height, as well as with their predicted height according to the method of Bayley-Pinneau. No significant differences were found between age of menarche in our patients and in controls. Adult height in patients with organic CPP was significantly lower than that in patients with idiopathic CPP. CONCLUSIONS: 1. Triptorelin can increase BMI in girls with CPP. 2. The presence of an organic cause in patients with CPP worsens the prognosis for adult height. 3. The Bayley-Pinneau prediction method for "average" bone age is useful for establishing a prognosis of adult height in girls with CPP treated with triptorelin.

[Central precocious puberty is associated with a high prevalence of organic disease]. / La pubertad precoz central en niños está asociada a una elevada prevalencia de patología orgánica.

INTRODUCTION: The incidence of central precocious puberty (CPP) is lower in boys than in girls; however, the presence of organic disease is more common in boys. OBJECTIVES: To investigate the percentage of CPP secondary to organic disease in boys and to analyze their clinical and biological characteristics at diagnosis, during follow-up, and at the end of therapy. PATIENTS AND METHODS: Eight boys with a diagnosis of CPP treated with triptorelin every 28 days were included. Age, height in standard deviation (SD), body mass index (BMI) in SD, growth velocity in SD, bone age (Greulich and Pyle), predicted height (Bayle-Pinneau), and target height were analyzed. Testicular volume was measured (according to Prader standards) and peak lutein hormone (LH) values and testosterone levels were determined after gonadotropin-releasing hormone (GnRH) stimulus. RESULTS: Seventy-five percent of the patients with CPP had organic disease. After treatment with triptorelin, growth reduction significantly decreased. In contrast, no changes were seen in the difference between bone age and chronological age, due to the slight difference found at diagnosis. Likewise, during treatment, there was no LH peak and testosterone levels were lower than 0.5 ng/ml in response to GnRH stimulus. No changes were observed in weight or BMI. Three patients reached an adult height similar to their genetic height and their predicted height, as estimated by the Bayle-Pinneau method. CONCLUSIONS: 1. Among boys with CPP we found a substantial number of patients with organic disease. 2. Adult height after treatment with triptorelin can reach the normal range. 3. Determination of testosterone levels can be useful in the follow-up of these children during treatment.

[Transitory neonatal diabetes mellitus and pericentric chromosome 9 inversion]. / Diabetes mellitus neonatal transitoria e inversión pericéntrica del cromosoma 9.

Neonatal diabetes mellitus is an infrequent carbohydrate metabolism disorder with an estimated incidence of approximately one case every 400,000 to 600,000 live newborns. We present the case of a 1-month-old girl with irritability, polyuria, and a 24-h history of eagerness to feed, without fever or other associated symptoms. The patient's karyotype, obtained by amniocentesis, was 46XX with a pericentric chromosome 9 inversion. Her birth weight and length were 2,230 g (-2.65 SD) and 46 cm (-1.8 SD), respectively. Glycemic determinations during the first 72 h of extrauterine life oscillated between 90 and 157 mg/dl. Physical examination revealed general involvement, skin and mucosal pallor, evident signs of dehydration, and impaired awareness. Laboratory tests revealed glycemia: 1552 mg/dL, pH 7.16, pCO2: 23.7 mmHg; bicarbonate: 8.1 mEq/L, base excess: -19.1, and positive ketonemia. After initial stabilization, the patient was treated with intravenous fluids and continuous intravenous regular insulin infusion (initial dose 0.03-0.05 IU/kg/h). After intensive treatment, breast feeding was restored and a short-acting insulin analog was administered subcutaneously after every feed (0.1 to 0.3 IU according to capillary glycemic determinations). Insulin requirements decreased and were discontinued when the infant was 5 months old. Currently, the patient is 2 years and 7 months old and her glycemia and glycosylated hemoglobin levels are normal. Anti-islet (ICA and GAD) and anti-tyrosin phosphatase (IA2) antibodies were absent, as were mutations in the glucokinase gene (GCK).

Subclavian vein catheterization in critically ill children: analysis of 322 cannulations.

Complications in 322 percutaneous subclavian vein catheters placed in 272 children by the infraclavicular approach were investigated prospectively. Ages ranged from 4 days to 15 years. Incidents during catheter introduction occurred in 13 cases, and were more common when insertion was on the right side (p less than 0.01). Nine (2.8%) required urgent treatment: (6 pneumothorax, 1 hydrothorax, and 2 hemothorax). Anomalous lodging of the catheter tip was more common when insertion was on the right side (p less than 0.05). Complications during catheter maintenance were 3 venous thromboses, 3 catheter obstructions, and 7 migrations out of position. There was no significant difference in complications related to age. Catheter cultures were positive in 33 (17%) of 190 catheters cultured (27 through colonization and 6 through catheter-related sepsis). Staph. epidermidis was the organism most frequently isolated (19 cases; 58%). Catheterization time of more than 5 days and catheter-related sepsis were statistically associated (p less than 0.05). Staph. epidermidis isolation and duration of cannula use were statistically related (p less than 0.01). No catheter-related deaths occurred. We conclude that subclavian vein catheterization is a simple and useful procedure that entails relatively few serious complications when performed by experienced pediatricians.

[Graves' disease in children: management and review of 20 patients]. / Enfermedad de Graves: estado actual y revisión de 20 casos.

INTRODUCTION: Hyperthyroidism is a rare condition among children and the most common cause is Graves' disease. The best therapy for these patients continues to be debated. PATIENTS AND METHODS: The medical records of 20 patients with Graves' hyperthyroidism who were treated between 1989 and 2003 were reviewed. Clinical symptoms, thyroid function, thyroid autoantibodies, thyroid imaging tests, first line therapy, disease or treatment-induced complications and the need for a secondary treatment option, as well as outcomes, were analyzed. RESULTS: Age at diagnosis ranged from 5 to 16 years and there were more girls than boys (3:1). The most frequent symptom was hyperactivity (58 %). The most frequent sign was goiter (79 %). Thyroid-stimulating immunoglobulin antibodies were found in 90 % of the patients, at the beginning or during the course of the disease. All of the patients received antithyroid medication as first line therapy, but remission was achieved in just one patient. Surgical thyroidectomy was required in three patients, and two patients were treated with radioiodine. CONCLUSION: Because few children achieve remission with medical therapy, other types of treatment (surgery or radioiodine) are often required. Although antithyroid drugs are considered the first choice for treatment in Europe, some authors advocate radioiodine as the treatment of choice.

[Gynecomastia secondary to Leydig cell tumor]. / Ginecomastia secundaria a tumor de células de Leydig.

We describe a 16-year-old boy with Leydig cell tumor who initially presented bilateral gynecomastia with increased estradiol concentrations, decreased testosterone concentrations and normal gonadotropin levels. Testicular ultrasonography showed a tumor in the left testicle, and orchidectomy was performed. Histopathological analysis revealed a Leydig cell tumor. Two months after surgery, the gynecomastia diminished gradually and estrogen levels returned to normal. No recurrences have occurred during a 2-year follow-up.

[Graves' disease in patients with Down syndrome]. / Enfermedad de Graves en pacientes con síndrome de Down.

Three patients showing the rare association of Down syndrome and Graves' disease are reported. While two of the patients were asymptomatic, the third showed goiter, nervousness, weight loss, and tachycardia. In addition to the typical features of hyperthyroidism, this patient showed right heart failure and hypertransaminasemia, which disappeared with antithyroid treatment. Because Graves' disease is rare in children, and the clinical presentation was unusual in one of our patients, we report three patients with Graves' disease and Down syndrome, and emphasize the importance of periodic evaluation of thyroid function in children with Down syndrome not only to detect hypothyroidism.

[Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide]. / Síndrome de hiperinsulinismo-hiperamoniemia por mutación de novo en el exón 7 (G979A) del gen GLUD-1, con excelente respuesta a diazóxido.

Hyperinsulinism-hyperammonemia syndrome is characterized by recurrent and symptomatic hypoglycemias in childhood, secondary to hyperinsulinism associated with mild and asymptomatic hyperammonemia. This syndrome is caused by dominantly expressed mutations of the glutamate dehydrogenase gene (10q23.3). These mutations modify control of enzyme activity and represent the second cause of congenital hyperinsulinism of known genetic etiology. Moreover, this syndrome is the first genetic disorder due to an increase of function in an enzyme of intermediary metabolism to have been identified. We present the case of a 16-month-old boy with symptomatic recurrent hypoglycemias from the end of the first year of life, caused by a de novo mutation in exon 7 (G979A) of the GDH gene, with excellent outcome after diazoxide treatment.

[Adrenal tumours in childhood]. / Tumores suprarrenales en la infancia.

This special article aims to summarise the current knowledge regarding the two groups of tumours with their origin in the adrenal gland: 1) adrenocortical tumours, derived from the cortex of the adrenal gland and 2) phaeochromocytomas and paragangliomas, neuroendocrine tumours derived from nodes of neural crest derived cells symmetrically distributed at both sides of the entire spine (paragangliomas [PG]). These PGs can be functioning tumors that secrete catecholamines, which confers their typical dark colour after staining with chromium salts (chromaffin tumors). Among these, the term phaeochromocytoma (PC) is restricted to those PGs derived from the chromaffin cells in the adrenal medulla (intra-adrenal PGs), whereas the term PG is used for those sympathetic or parasympathetic ones in an extra-adrenal location. We analyse the state of the art of their pathogenic and genetic bases, as well as their clinical signs and symptoms, the tests currently available for performing their diagnosis (biochemical, hormonal, imaging and molecular studies) and management (surgery, pre- and post-surgical medical treatment), considering the current and developing strategies in chemo- and radiotherapy.

[Renal lithiasis as a manifestation of primary hyperparathyroidism]. / Litiasis renal como forma de presentación de hiperparatiroidismo primario.

Primary hyperparathyroidism is an infrequent condition in infancy and is usually due to adenoma. It may be asymptomatic and is suspected when isolated hypercalcemia is detected in routine investigations. We describe the case of a 13-year-old boy with hypercalcemia presenting as renal lithiasis. Cervical magnetic resonance revealed a 13 x 8 x 5 mm-node in the right parathyroid. Gammagraphy with Cardiolite-Technetium 99 suggested an adenoma in the inferior right portion of the parathyroid. Right inferior parathyroidectomy was performed and ectopic tissue, as well as hyperplasia of the parathyroids, was removed. The histopathological diagnosis was adenoma of the parathyroid gland. After surgery blood calcium levels returned to normal. In conclusion, cervical magnetic resonance and gammography with Cardiolite-Technetium 99 should be performed in children presenting hypercalcemia and laboratory results suggestive of primary hyperparathyroidism. Subsequently, parathyroidectomy should be performed.

[Deletion of thymine at position 2298 in exon 5 of the androgenic receptor gene causing complete androgen insensitivity syndrome]. / Deleción de timina en posición 2298 en el exón 5 del receptor androgénico como responsable de insensibilidad completa a los andrógenos.

BACKGROUND: Androgen insensitivity syndrome is an X-linked disorder of male sexual differentiation caused by mutations in the androgen receptor gene and resulting in a wide range of phenotypes. OBJECTIVE: To study the androgen receptor gene in two cousins with androgen insensitivity syndrome. PATIENTS AND METHODS: We present two patients who attended our clinic for primary amenorrhea. The phenotype and external genitalia were female. Pelvic ultrasonography showed the absence of uterus and female internal genitalia. In both patients the karyotype was 46 XY and consequently both patients underwent bilateral gonadectomy. Histological examination confirmed that the gonads were testes. Molecular study of the androgen receptor gene was performed to confirm androgen insensitivity syndrome. RESULTS: Both patients showed a thymine deletion in exon 5 at nucleotide 2298 (codon CCT for proline 766) of the androgen receptor gene, causing their phenotype. CONCLUSIONS: To confirm androgen insensitivity syndrome,t he androgen receptor gene should be analyzed for mutations, although the relationship between genotype and phenotype is weak. To detect carriers of the mutation, karyotyping and study of the androgen receptor gene should be performed in girls who are first relative of the probands.