Aspectos clínico-radiológicos en un caso de pseudohipoparatiroidismo tipo 1a. Osteodistrofia hereditaria de Albright / Clinical and radiological findings in a case of pseudohypoparathyroidism type 1a. Albright hereditary osteodystrophy

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Tumores suprarrenales en la infancia / Adrenal tumours in childhood

En este artículo se revisa y resume el estado actual del conocimiento de los 2 grandes grupos de tumores originados en la glándula suprarrenal: a) corticosuprarrenalomas, tumores derivados de la corteza de la glándula suprarrenal; y b) feocromocitomas y paragangliomas, tumores neuroendocrinos que tienen su origen en los paraganglios, formados por cúmulos ganglionares de células derivadas de la cresta neural, que se distribuyen simétricamente a lo largo del sistema nervioso autónomo, desde la pelvis a la base del cráneo, siguiendo el eje longitudinal del cuerpo (paragangliomas [PG]). Estos últimos (PG) pueden ser funcionantes y secretar catecolaminas que, al oxidarse con sales de cromo, adquieren un color marrón oscuro (tumores cromafines). Entre ellos, el término de feocromocitoma (FC) se reserva a los PG derivados de las células cromafines de la médula suprarrenal (PG intra-suprarrenales o de médula suprarrenal); mientras que, el término de PG hace referencia a los PG localizados fuera de la glándula suprarrenal, tanto simpáticos como parasimpáticos. Se analizará el estado actual de las bases conceptuales, patogénicas, fundamentos genéticos y elementos diagnósticos (manifestaciones clínicas, parámetros bioquímicos y hormonales, técnicas de imagen y estudios moleculares) y terapéuticos (cirugía, tratamiento médico pre y postoperatorio, quimioterapia y radioterapia) de aplicación en la actualidad o en desarrollo (AU)

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 (AU)

[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.

Linfadenitis cervical simulando un bocio / Cervical lymphadenitis mimicking a goiter

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Hipocrecimiento armónico / Harmonic hypogrowth

Un hipocrecimiento es considerado armónico, cuando se mantienen las proporciones normales entre los distintos segmentos corporales. A lo largo del trabajo, se analiza dicho concepto y las dificultades que existen en establecer la normalidad o anormalidad entre dichas proporciones, así como las múltiples causas que pueden determinar un hipocrecimiento armónico. A partir de los datos de la anamnesis (inicio prenatal o postnatal del hipocrecimiento) y exploración (armonía/disarmonía dorporal), se propone cómo realizar una orientación diagnóstica y qué pruebas complementarias solicitar de forma racional. Por último, se analizan las opciones terapéuticas disponibles ante un hipocrecimiento y cuál sería el tratamiento específico según su etiopatogenia (AU)

Hypogrowth is considered to be harmonic when normal proportions are maintained between the different body segments. During this paper, this concept and the difficulties that exist to establish normality or abnormality regarding these proportions and the multiple causes that may determine harmonic hypogrowth are analyzed. Based on the anamnesis data (prenatal or postnatal onset of hypogrowth) and examination (body harmony/disharmony), a proposal is made on how to make a diagnostic orientation and what how to rationally request complementary tests. Finally, the therapeutic options available in regards to short stature and what their specific treatment would be according to the etiopathogeny are analyzed (AU)

Miositis secundaria a tratamiento antitiroideo / Myositis secondary to antithyroid treatment

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Alteraciones endocrinometabólicas más frecuentes en la adolescencia / Most frequent endocrine-metabolic alterations in adolescence

La mayoría de las alteraciones endocrinológicas o metabólicas pueden aparecer o ponerse de manifiesto en la adolescencia. La patología tiroidea representa una de las alteraciones endocrinológicas más frecuentes en la adolescencia, especialmente en las niñas. Su forma de presentación suele ser la aparición de bocio, que se observa, aproximadamente en un 3-4% de los adolescentes. Durante la pubertad se desarrollan los caracteres sexuales secundarios y se alcanza la talla adulta. La talla baja y el retraso en el inicio de la pubertad, fenómenos habitualmente asociados, son las alteraciones que, junto con el tamaño genital y el desarrollo mamario, suponen una mayor preocupación para los adolescentes. Dentro de las alteraciones metabólicas, la obesidad es el trastorno nutricional más frecuente en los países desarrollados durante la infancia y la adolescencia. La valoración de la adiposidad en la práctica clínica se realiza mediante métodos antropométricos, siendo el parámetro nutricional más utilizado del índice de masa corporal. La diabetes mellitus es un grupo heterogéneo de trastornos metabólicos caracterizados por la hiperglucemia y que resultan de defectos en la secreción de la insulina, en su acción o en ambos. Según el Comité de Expertos de la Asociación Americana de Diabetes, se clasifica en cuatro grandes grupos: a) diabetes mellitus tipo 1; b) diabetes mellitus tipo 2; c) otros tipos específicos de diabetes y d) diabetes gestacional (AU)

Most of the endocrinological or metabolic disorders may appear or be seen in adolescence. Thyroid disease is one of the most frequent endocrinological disorders in adolescence, especially in girls. Its presentation form is generally the appearance of goiter, which is observed in approximately 3%-4% of adolescents. During puberty, they develop secondary sexual characteristics and reach adult height. Low height and delay in the onset of puberty, phenomena that are usually associated, are the alterations which together with genital size and breast development are of great concern to adolescents. Within metabolic disorders, obesity is the most frequent nutritional disorder in developed countries during childhood and adolescence. Evaluation of adiposity in the clinical practice is done with anthropometric methods, the nutritional parameters used most being body mass index. Diabetes mellitus is a heterogeneous group of metabolic disorders characterized by hyperglycemia and that is a result of defects in insulin secretion, in its action or in both. According to the expert´s Committee of the American Association of Diabetes, this is classified into 4 large groups: a) type 1 diabetes mellitus; b) type 2 diabetes mellitus; c) other specific types fo diabetes and d) gestational diabetes (AU)

[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.

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

Introducción Las complicaciones más relevantes asociadas a la pubertad precoz central (PPC) en las niñas son una talla adulta baja respecto a la talla genética y desarrollar trastornos psicosociales. Objetivos Estudiar los efectos del tratamiento con triptorelina en un grupo de niñas con PPC. Pacientes y métodos Un total de 34 niñas diagnosticadas de PPC, orgánica o idiopática, tratadas con triptorelina mensual. Se estudian: edad, talla en desviaciones estándar (DE), edad ósea (Greulich y Pyle), predicción de talla (Bayle-Pinneau), índice de masa corporal (IMC) (DE), tamaño uterino (ecografía pélvica), talla diana, resonancia magnética (RM) craneal, así como la dosis de triptorelina y la duración del tratamiento. Resultados El tratamiento con triptorelina produce una disminución de la velocidad de crecimiento y un aumento del IMC a partir del primer año de tratamiento, mantenidos tras la retirada del mismo, de manera estadísticamente significativa. La talla adulta es acorde con la talla genética, y con la predicción de talla mediante el método de Bayley-Pinneau. La menarquia aparece a la misma edad que en la población general. La talla adulta de las pacientes con PPC orgánica es significativamente menor que la de las pacientes con PPC idiopática. Conclusiones 1. El tratamiento de la PPC en niñas con triptorelina puede producir aumento del IMC. 2. La existencia de una causa orgánica de la PPC es un factor que empeora el pronóstico de talla. 3. El método de predicción de talla Bayley-Pinneau, para edad ósea acorde a la edad cronológica es adecuado para hacer un pronóstico de talla final en estas pacientes

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

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

Introducción La incidencia de pubertad precoz central (PPC) en los niños es inferior a la presentada por las niñas; sin embargo, la posibilidad de presentar patología orgánica cerebral es mayor. Objetivos Conocer el porcentaje de PPC secundaria a patología orgánica en niños, y estudiar las características clínico-biológicas al diagnóstico, durante y al final del tratamiento. Pacientes y métodos Se estudian 8 niños diagnosticados de PPC, en tratamiento con triptorelina mensual. Se valoraron: edad, talla en desviaciones estándar (DE), índice de masa corporal (IMC) en DE, velocidad de crecimiento (DE), edad ósea (Greulich y Pyle), predicción de talla (Bayle-Pinneau) y talla diana. Se determinó el volumen testicular, el pico de la hormona luteinizante (LH) tras estimulación con la hormona estimuladora de gonadotropinas (GnRH) y las concentraciones plasmáticas de testosterona. Resultados El 75 % de los niños presentaron patología orgánica. Tras el tratamiento con triptorelina, se evidenció una disminución significativa de la velocidad de crecimiento, sin cambios en la diferencia entre la edad ósea menos la edad cronológica, debido a la escasa diferencia existente al diagnóstico. Durante el tratamiento presentaron un test de GnRH frenado junto con concentraciones de testosterona inferiores a 0,5 ng/ml, sin alteraciones del peso ni del IMC. Tres pacientes alcanzan una talla adulta acorde con su talla genética y con la predicción de talla según el método de Bayley-Pinneau. Conclusiones 1. En niños afectados de PPC el elevado porcentaje de patología orgánica es elevado. 2. La talla adulta tras tratamiento con análogos de GnRH se encontró dentro de la normalidad. 3. La determinación de los niveles de testosterona puede ser de utilidad en el control terapéutico de estos niños

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).

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

La diabetes mellitus neonatal es una alteración poco frecuente del metabolismo de los hidratos de carbono. Su incidencia oscila en torno a un caso por cada 400.000 a 600.000 recién nacidos vivos. Se presenta un lactante de un mes de vida con irritabilidad, poliuria y avidez por las tomas de 24 h de evolución, sin fiebre ni otros síntomas. Amniocentesis: cariotipo 46XX con inversión pericéntrica del cromosoma 9. Peso y longitud al nacimiento 2.230 g (­2,65 DE) y 46 cm (­1,8 DE), respectivamente. Destaca la presencia de controles glucémicos entre 90 y 157 mg/dl en las primeras 72 h de vida. Exploración física: mal estado general, palidez cutánea y mucosa, evidentes signos de deshidratación y tendencia al sueño. Análisis complementarios: glucemia: 1.552 mg/dl, pH: 7,16, pCO2: 23,7 mmHg, bicarbonato: 8,1 mEq/l, exceso de bases: ­19,1 y cetonemia positiva. Tras la estabilización inicial, recibió tratamiento con fluidoterapia intravenosa y perfusión intravenosa continua de insulina regular (dosis 0,03-0,05 U/kg/h). Después de este tratamiento intensivo, se restauró la lactancia artificial, junto con la administración de un análogo de insulina de acción rápida, vía subcutánea, tras cada toma (0,1 a 0,3 U/toma, de acuerdo con la glucemia capilar). Progresivamente, disminuyeron las necesidades de insulina hasta prescindir de ella al quinto mes de vida. Actualmente, la paciente tiene una edad de 2 años y 7 meses y presenta concentraciones de glucemia y hemoglobina glucosilada normales. Se demostró la ausencia de anticuerpos frente a las células de los islotes pancreáticos (ICA y GAD) y frente a su enzima tirosín fosfatasa (IA2). Así mismo, se descartó la existencia de mutaciones en el gen codificador de la glucocinasa

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)

Adenoma tóxico tiroideo e hipertiroidismo / Toxic thyroid adenoma and hyperthyroidism

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[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.