Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos? / Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: a contiguous gene syndrome

Antecedentes: Son muchos los genes que se han implicado en la diferenciación testicular, cuyas alteraciones dan cuadros de trastornos de la diferenciación sexual y cariotipo 46XY. Caso clínico: Recién nacido con hipospadias interescrotal, gónadas palpables y pene hipoplásico. Cariotipo 46XY. Ecografía abdominal: testes y sin restos müllerianos. Buena respuesta al test corto de gonadotropinas. Al año presenta retraso psicomotor, hipotonía. Resonancia magnética con atrofia de sustancia blanca frontotemporal y disminución del cuerpo calloso. Biopsia testicular compatible con disgenesia gonadal. Dada la situación intersexual al nacimiento, el retraso psicomotor y la presencia de dismorfias faciales se solicita cariotipo de alta resolución: deleción 46, XY, del(9p)(p23-pter).ish tel (9p-). Comentarios: Son muchos los genes implicados en la diferenciación testicular, algunos de ellos también influyen sobre el desarrollo de otros tejidos. En el brazo corto del cromosoma 9 se encuentran dos genes, DMRT1 y DMRT2, implicados en la diferenciación sexual, cuyas alteraciones también han sido descritas como causantes de retraso mental. En la evaluación de los trastornos de la diferenciación sexual son muy importantes los signos acompañantes para poder orientar el estudio genético (AU)

Background: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study (AU)

[Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?]. / Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos?

BACKGROUND: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. CASE: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). DISCUSSION: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.

[Thyroid disorders and childhood rheumatic diseases]. / Alteraciones tiroideas y enfermedades reumáticas infantiles.

INTRODUCTION: The relationship between thyroid dysfunction and autoimmune diseases has mainly been described in adults. The aim of this study was to analyse the prevalence and characteristics of thyroid abnormalities in children with rheumatic diseases. PATIENTS AND METHOD: One hundred and forty-five patients (109 girls and 36 boys) from a rheumatology paediatric unit were studied for two years. The diagnoses were: juvenile idiopathic arthritis (JIA) (n=115), lupus (n=17), juvenile dermatomyositis (n=5), scleroderma (n=4), and one case each of the following: mixed connective mixed disease, CINCA syndrome (chronic infantile neurological, cutaneous and articular), TRAPS (tumour necrosis factor receptor-associated periodic syndrome), and familial mediterranean fever. T4 and TSH levels were carried out, and if these showed abnormalities, antithyroid antibodies (ATA) were determined. RESULTS: Six girls aged between 2 and 17 years old had thyroid abnormalities. Three had JIA and three had lupus. Five were diagnosed with autoimmune hypothyroidism, with high ATA levels, and there was one case of hyperthyroidism. All of the patients with thyroid dysfunction had positive antinuclear antibodies (ANA), compared to 34.5% of the rest of the patients (p=0.003). CONCLUSIONS: The prevalence of thyroid abnormalities in children with rheumatic disease was 4.14% to 7.9% in JIA patients with positive ANA, and up to 17.6% with lupus. The majority of patients were asymptomatic. Thyroid hormones should be determined when rheumatic disease is diagnosed and periodically afterwards.

Alteraciones tiroideas y enfermedades reumáticas infantiles / Thyroid Disorders and Childhood Rheumatic Diseases

Introducción: la asociación de trastornos tiroideos y enfermedades autoinmunitarias ha sido descrita en adultos y, en menos ocasiones, en niños. El objetivo de este trabajo es analizar la prevalencia y las características de las alteraciones tiroideas en niños con enfermedades reumáticas. Pacientes y método: se estudió a 145 pacientes (109 mujeres y 36 varones) atendidos en una unidad de reumatología pediátrica durante 2 años. Los diagnósticos fueron: artritis idiopática juvenil (AIJ) (n=115), lupus (n=17), dermatomiositis juvenil (n=5), esclerodermia (n=4) y 1 caso de cada uno de los siguientes: enfermedad mixta del tejido conectivo, síndrome CINCA (chronic infantile neurologic cutaneous and articular), TRAPS (tumor necrosis factor receptor-associated periodic syndrome) y fiebre mediterránea familiar. En todos se determinaron las concentraciones de T4 y TSH, y si estaban alterados, se determinaban los anticuerpos antitiroideos (ATA). Resultados: 6 niñas tuvieron alteración tiroidea, con edades de 2 a 17 años; 3 tenían AIJ y 3, lupus; 5 fueron diagnosticadas de hipotiroidismo autoinmunitario, con ATA elevados, y 1 caso, de hipertiroidismo. El 100% de los pacientes con alteración tiroidea tenían anticuerpos antinucleares (ANA) positivos, frente al 37,4% de los restantes (p=0,003). Conclusiones: La prevalencia de alteraciones tiroideas en niños con enfermedad reumática fue del 4,14%, y aumentó al 7,9% en AIJ con ANA positivos y al 17,6% en lupus. La mayoría estaban asintomáticos. La determinación de hormonas tiroideas debería realizarse al diagnóstico de enfermedad reumática y de forma periódica después (AU)

Introduction: The relationship between thyroid dysfunction and autoimmune diseases has mainly been described in adults. The aim of this study was to analyse the prevalence and characteristics of thyroid abnormalities in children with rheumatic diseases. Patients and method: One hundred and forty-five patients (109 girls and 36 boys) from a rheumatology paediatric unit were studied for two years. The diagnoses were: juvenile idiopathic arthritis (JIA) (n=115), lupus (n=17), juvenile dermatomyositis (n=5), scleroderma (n=4), and one case each of the following: mixed connective mixed disease, CINCA syndrome (chronic infantile neurological, cutaneous and articular), TRAPS (tumour necrosis factor receptor-associated periodic syndrome), and familial mediterranean fever. T4 and TSH levels were carried out, and if these showed abnormalities, antithyroid antibodies (ATA) were determined. Results: Six girls aged between 2 and 17 years old had thyroid abnormalities. Three had JIA and three had lupus. Five were diagnosed with autoimmune hypothyroidism, with high ATA levels, and there was one case of hyperthyroidism. All of the patients with thyroid dysfunction had positive antinuclear antibodies (ANA), compared to 34.5% of the rest of the patients (p=0.003). Conclusions: The prevalence of thyroid abnormalities in children with rheumatic disease was 4.14% to 7.9% in JIA patients with positive ANA, and up to 17.6% with lupus. The majority of patients were asymptomatic. Thyroid hormones should be determined when rheumatic disease is diagnosed and periodically afterwards (AU)

Macroorquidismo: a propósito de un caso / Macroorchidism: a case report

El macroorquidismo es una entidad poco frecuente en niños y que suele aparecer formando parte del síndrome X frágil. Otras posibles etiologías son el hipotiroidismo primario de larga evolución, los restos adrenales en la hiperplasia suprarrenal congénita, los macroadenomas secretores de hormona foliculoestimulante (FSH), los tumores locales, los linfomas o el déficit de aromatasa. En adultos el macroorquidismo bilateral puede constituir una variante de la normalidad. Presentamos el caso de un niño de 11,5 años remitido a nuestro hospital por haber presentado en los últimos meses un llamativo aumento bilateral del tamaño testicular. En la exploración física se objetivó un volumen testicular mayor de 30 ml. Las pruebas complementarias realizadas permitieron descartar las entidades hasta ahora descritas como causantes de macroorquidismo. Por tanto, se estableció el diagnóstico de macroorquidismo idiopático. La hiperplasia de células de Sertoli hallada en la biopsia testicular, sin existir concentraciones plasmáticas elevadas de FSH, induce a especular sobre una hipotética hiperfunción del receptor de la FSH como responsable del exagerado crecimiento testicular que este paciente presentaba

Macroorchidism is a rare condition in children and is usually associated with fragile X syndrome. Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency. Bilateral macroorchidism can be a normal variant in adult men. We report the case of an 11.5-year-old boy who was referred to our hospital for evaluation of marked bilateral testicular enlargement in the previous few months. Physical examination revealed a testicular volume larger than 30 ml. Complementary investigations allowed us to rule out all hitherto reported etiologies of bilateral macroorchidism and therefore a diagnosis of idiopathic macroorchidism was established. The increased number of Sertoli cells found on biopsy, without elevated plasma FSH levels, prompted us to speculate about a hypothetical FSH receptor hyperfunction as a possible cause of the exaggerated testicular enlargement in this patient

Diagnóstico, tratamiento y evolución de la enfermedad de Cushing / Diagnosis, treatment and long-term outcome in cushing's disease

La enfermedad de Cushing tiene baja prevalencia en la población infantil. Generalmente está producida por microadenomas hipofisarios secretores de hormona adrenocorticotropa (ACTH). La sintomatología puede pasar desapercibida largo tiempo, siendo los síntomas más constantes retraso del crecimiento y obesidad. Se presentan 4 pacientes diagnosticados de enfermedad de Cushing en un hospital terciario, desde enero de 1995 a diciembre del 2002. Dos eran chicos y 2 chicas, con edades entre 10 y 15 años. Las primeras manifestaciones fueron estancamiento estatural con rápida ganancia ponderal. El tiempo transcurrido desde el inicio de los síntomas hasta el diagnóstico fue de 2,5-5 años. Todos presentaban facies de "luna llena" con aumento de grasa cervicodorsal. El cortisol libre urinario estaba elevado en los 4 pacientes. Había desaparecido el ritmo circadiano del cortisol en sangre (3/3), con una supresión de la cortisolemia y cortisoluria a menos del 50 por ciento de los valores basales con dosis altas pero no bajas de dexametasona (2/2). En 3 pacientes se visualizó microadenoma hipofisario en la resonancia magnética (RM) con contraste; en el cuarto no se observó tumor pituitario y se realizó cateterismo de senos petrosos inferiores, mostrando lateralización izquierda de la secreción central de ACTH. Se practicó cirugía transesfenoidal en todos los pacientes: dos están en remisión; un tercero presentó recidiva de la enfermedad y hubo que realizar hipofisectomía total por imposibilidad de resección; en el cuarto paciente la enfermedad fue persistente tras una segunda cirugía y recibió radioterapia hipofisaria. Dos de los 4 pacientes presentan hipopituitarismo secundario (AU)

[Diagnosis, treatment and long-term outcome in Cushing's disease]. / Diagnóstico, tratamiento y evolución de la enfermedad de Cushing.

Cushing's disease is uncommon in childhood. It is usually caused by the oversecretion of adrenocorticotrophic hormone (ACTH) by a pituitary corticotroph adenoma. Clinical abnormality is often undetected for long periods of time. The principal clinical features are growth retardation and obesity. We present four patients who were diagnosed with Cushing's disease in a tertiary hospital from January 1995 to December 2002. There were two boys and two girls, aged 10-15 years. The main clinical features at presentation were growth failure and excessive weight gain. The interval between onset of symptoms and diagnosis ranged from 2.5 to 5 years. All patients presented moon face and increased fat around the neck. In all patients, 24-hour urinary free cortisol was high and loss of normal serum cortisol circadian rhythm (3/3) and suppression of cortisol to less than 50 % of the basal level with high-dose but not with low-dose dexamethasone (2/2) were observed. Pituitary microadenoma was detected by magnetic resonance imaging in three patients; no tumor was detected in the fourth patient and inferior petrosal sinus sampling was performed, showing left lateralization of ACTH central secretion. Therapy consisted of transsphenoidal surgery in all patients. Two patients are in remission, one patient presented disease recurrence requiring total hypophysectomy because the tumor could not be completely removed and one patient had persistent disease after a second intervention and required pituitary radiotherapy. Two patients showed pituitary hormone deficiency after therapy.

[Parathyroid cyst in the differential diagnosis of neck masses. A case report]. / Quiste paratiroideo: diagnóstico diferencial de tumoración cervical.

Parathyroid cysts are rarely seen in clinical practice. They should always be included in the differential diagnosis of neck masses. Conclusive diagnosis should be established by fine-needle aspiration (FNA), a procedure that is useful for both diagnostic and therapeutic purposes.We report the case of girl who aroused clinical suspicion of thyroid node. However, the diagnosis of parathyroid cyst was subsequently confirmed by FNA.

Quiste paratiroideo: diagnóstico diferencial de tumoración cervical / Parathyroid cyst in the differential diagnosis of neck masses. A case report

Los quistes de paratiroides son una entidad clínica poco frecuente que deben considerarse en el diagnóstico diferencial de tumoración cervical. El diagnóstico se establece por punción-aspiración con aguja fina (PAAF), que es un método diagnóstico y terapéutico. Presentamos el caso de una niña con sospecha clínica inicial de nódulo tiroideo, pero en el que la PAAF permitió el diagnóstico de quiste paratiroideo (AU)