Evaluación de la anemia ferropénica en niños menores de 6 años de edad de diferentes etnias / Evaluation of iron deficiency anemia in a population of different ethnic groups under 6 years

Introducción: La alta prevalencia de ferropenia en nuestro medio, así como el número elevado de población inmigrante con hábitos y culturas alimentarias diferentes, fundamentan un estudio para evaluar el estado nutricional y documentar la presencia de ferropenias secundarias a las diversas pautas de alimentación. Objetivos: Evaluar los parámetros antropométricos y las concentraciones plasmáticas de hemoglobina, ferritina y sideremia de cada etnia. Población y métodos: Estudio prospectivo realizado durante los años 2008-2010 en una consulta de pediatría de atención primaria, en una población de 307 niños de Salt (Girona), con una edad inferior a 6 años, de diferentes etnias: caucásicos (n= 85; 27,4%), magrebíes (n= 87; 28%), subsaharianos (n= 101; 32,5%), centroamericanos (n= 20; 6,4%) e indopakistaníes (n= 14; 4,5%). Los parámetros bioquímicos estudiados fueron la hematimetría, la sideremia y la ferritina. Resultados: El análisis de los parámetros antropométricos no demuestra diferencias significativas entre la población autóctona y la inmigrante. En el análisis bioquímico se pone de manifiesto un déficit de hierro (sideremia <50 µg/dL) (caucásicos 38,5%, magrebíes 51%, subsaharianos 43%, centroamericanos 35%, indopakistaníes 79%), un déficit de ferritina (<20 ng/mL) (caucásicos 10,5%, magrebíes 49%, subsaharianos 29%, centroamericanos 15% e indopakistaníes 85%) y un déficit de hemoglobina (<10,5 mg/mL) (caucásicos 3,7%, magrebíes 7%, subsaharianos 15%, centroamericanos 5% e indopakistaníes 21%). Conclusiones: No se ha detectado desnutrición con repercusión auxológica en las poblaciones evaluadas. Pero se aprecia un déficit de hierro, ferritina y hemoglobina en las poblaciones infantiles magrebí, subsahariana y, de forma más acusada, indopakistaní (AU)

Introduction: Due to the high prevalence of ferropenic diseases and the increase of different immigrant populations with their own eating habits, a population-based study was considered necessary in order to evaluate the nutritional status and document possible iron deficiencies secondary to each food culture. Study purpose: To evaluate the anthropometric parameters, the hemoglobin and ferritin plasmatic concentrations and the sideremy values in each ethnic group. Population and methods: Prospective study carried out from 2008 to 2010, in a paediatrician consultation working area. Population: 307 children from Salt (Girona) under the age of 6, Caucasian (n= 85; 27.4%), Moroccan (n= 87; 28%), Sub-Saharan African (n= 101; 32.5%), Central American (n= 20; 6.4%) and Indian-Paquistan (n= 14; 4.5%). Biochemical parameters: blood count, sideremy and ferritin values. Results: Analysis of anthropometric parameters did not show any relevant difference between the native and the immigrant population. The biochemical data showed a sideremy deficiency (<50 µg/dL) (Caucasian population 38.5%, Moroccan 51%, Sub-Saharan African 43%, Central American 35%, Indian-Paquistan 79%), a ferritin deficiency (<20 ng/mL) (Caucasian population 10.5%, Moroccan 49%, Sub-Saharan African 29%, Central American 15%, Indian-Paquistan 85%) and an hemoglobin deficiency (<10.5 mg/mL) (Caucasian population 3.7%, Moroccan 7%, Sub-Saharan African 15%, Central American 5%, Indian-Paquistan 21%). Conclusions: No auxologic malnutrition was detected in the studied population; however, there was a clear deficiency in sideremy, ferritin and hemoglobin in the child populations from Morocco and Sub-Saharan Africa, this being even more evident among the Indian-Paquistan population (AU)

Niveles plasmáticos de vitamina D en población autóctona y en poblaciones inmigrantes de diferentes etnias menores de 6 años de edad / Plasma vitamin D levels in native and immigrant children under the age of 6 years of different ethnic origins

INTRODUCCIÓN: El raquitismo carencial es una enfermedad emergente en nuestro medio y se describe especialmente en lactantes y niños inmigrantes de raza negra o piel oscura procedentes de países en vías de desarrollo. El objetivo de este trabajo está dirigido a conocer el estado nutricional de vitamina D en lactantes y niños inmigrantes de diferentes etnias de edad inferior a 6 años y compararlo con una población infantil autóctona. Población y métodos: Estudio prospectivo efectuado en un Centro de Asistencia Primaria de la localidad de Salt (Girona). Población: 307 niños con la siguiente distribución por origen y etnia: caucásicos (n=85; 28%), subsaharianos (n=101; 32,5%); magrebíes (n=87, 28,0%); centroamericanos (n=20; 6,4%) e indopakistaníes (n=14; 4,5%). Parámetros bioquímicos evaluados: calcemia, fosforemia, fosfatasa alcalina, 25-hidroxivitamina D y parathormona. Encuesta nutricional para estimar la ingesta de calcio, el aporte de vitamina D y el grado de exposición solar. RESULTADOS: Presentan déficit de vitamina D (< 20 ng/ml) el 8% de los niños de origen caucásico, el 18% de los subsaharianos, el 20% de los centroamericanos, el 34,5% de los magrebíes y el 64% de los niños de origen indopakistaní. El 2,9% de los niños estudiados (n = 9) presentan déficit grave de vitamina D (< 10 ng/ml), de los que tan solo un niño de origen subsahariano reúne criterios bioquímicos de raquitismo clásico. La prevalencia de la deficiencia de vitamina D es significativamente más elevada en los niños sin suplementación con vitamina D durante el primer año de vida. CONCLUSIONES: El 22,5% de los niños menores de 6 años de edad presenta concentraciones plasmáticas en rango deficitario de vitamina D, siendo más prevalente en los niños de origen indopakistaní y magrebí

INTRODUCTION: Nutritional rickets is an emergent disease in Spain, and occurs particularly in black and dark-skinned infants and children from immigrant populations. The aim of this work was to ascertain the vitamin D reserve in a population of native and immigrant children under the age of 6 years. Population and methods: A prospective study was conducted at a Primary Healthcare Centre in Salt (Girona). PATIENTS: 307 children with the following origin and race distribution: Caucasian (n = 85; 28%), Sub-Saharan (n = 101; 32.5%); Maghrebí (n = 87, 28.0%); Central-American (n = 20; 6.4%) and Indo-Pakistani (n = 14; 4.5%). The biochemistry blood parameters studied were: calcium, phosphorus, alkaline phosphatase, 25-hydroxivitamin D, and parathormone. A nutritional survey was used to estimate calcium and vitamin D intake and degree of sun exposure. RESULTS: Vitamin D deficiency (< 20 ng/ml) was detected in Caucasians (8%), Sub-Saharans (18%), Central-Americans (20%), Maghrebís (34.5%), and Indo-Pakistanis (64%). Of the children studied (n = 9), 2.9% had serious vitamin D deficiency (< 10 ng/ml); only one child of Sub-Saharan origin met the biochemical criteria for classical rickets. The prevalence of vitamin D deficiency was significantly higher in children not receiving vitamin D supplements in the first year of life. CONCLUSIONS: Plasma vitamin D concentrations were deficient in 22.5% of children under the age of six, being more prevalent in children of Indo-Pakistani and Maghrebí origin

[Plasma vitamin D levels in native and immigrant children under the age of 6 years of different ethnic origins]. / Niveles plasmáticos de vitamina D en población autóctona y en poblaciones inmigrantes de diferentes etnias menores de 6 años de edad.

INTRODUCTION: Nutritional rickets is an emergent disease in Spain, and occurs particularly in black and dark-skinned infants and children from immigrant populations. The aim of this work was to ascertain the vitamin D reserve in a population of native and immigrant children under the age of 6 years. POPULATION AND METHODS: A prospective study was conducted at a Primary Healthcare Centre in Salt (Girona). PATIENTS: 307 children with the following origin and race distribution: Caucasian (n=85; 28%), Sub-Saharan (n=101; 32.5%); Maghrebí (n=87, 28.0%); Central-American (n=20; 6.4%) and Indo-Pakistani (n=14; 4.5%). The biochemistry blood parameters studied were: calcium, phosphorus, alkaline phosphatase, 25-hydroxivitamin D, and parathormone. A nutritional survey was used to estimate calcium and vitamin D intake and degree of sun exposure. RESULTS: Vitamin D deficiency (<20 ng/ml) was detected in Caucasians (8%), Sub-Saharans (18%), Central-Americans (20%), Maghrebís (34.5%), and Indo-Pakistanis (64%). Of the children studied (n=9), 2.9% had serious vitamin D deficiency (< 10 ng/ml); only one child of Sub-Saharan origin met the biochemical criteria for classical rickets. The prevalence of vitamin D deficiency was significantly higher in children not receiving vitamin D supplements in the first year of life. CONCLUSIONS: Plasma vitamin D concentrations were deficient in 22.5% of children under the age of six, being more prevalent in children of Indo-Pakistani and Maghrebí origin.

Las anomalías de la diferenciación sexual / No disponible

Las anomalías de la diferenciación sexual (ADS) constituyen un amplio abanico de patologías originadas por alguna anomalía en alguna de las etapas del desarrollo fetal imprescindibles para el desarrollo normal de sexo genético (cariotipo, gonosomas (del sexo gonadal) ovarios o testículos) y/o del sexo genital interno y/o externo (masculino o femenino). Su frecuencia es baja e inferior a ½.000 recién nacidos, aunque variable según las etiologías, por lo que se incluyen actualmente dentro de la definición de las “enfermedades raras”, entendidas como “poco frecuentes”. Su etiología es genética y monogénica en su mayor proporción, habiéndose clonado y descrito unos 32-40 genes en la cascada de proteínas necesarias para una normal diferenciación femenina o masculina. La clasificación actual de las ADS debe adecuarse a un consenso internacional alcanzado en el año 2006. Se han descrito mutaciones inactivadoras en la mayor parte de estos genes aunque también existen anomalías por haploinsuficiencia o por exceso de dosis en aluno de ellos. A pesar de los avances alcanzados a lo largo de los últimos 20 años, algunos casos quedan aún sin diagnóstico etiológico definido, sea por un nuevo gen. El diagnóstico y el tratamiento de las ADS debe ser pluridisciplinar (a cargo de pediatras, endocrinólogos, bioquímicos, genetistas, cirujanos, radiólogos, anatopatólogos, psicólogos y psiquiatras) (AU)

Disorders of sex differentiation (DSD) include a number of diseases originated by any anomaly in any of the different steps during fetal development necessary for development of nromal genetic sex (karyotype, gonosomes), gonadal sex (ovaries or testes) and/or genital sex (internal and/or external) (feminine or masculine). Their frequency is low, lower than 1/2,000 newborns, though variable depending on the etiology, and they are included among the so-called “rare diseases”. Their etiology is genetic and monogenic in the majority, with some 32-40 different genes described in the cascade of proteins necessary ofor a normal female or male differentiation. DSD classification must now accommodate to the international consensus reached in 2006. Inactivatory mutations in the majority of these genes had been described mutations in the majority of these genes had been described although haploinsufficiency and/or duplications had also been described in some of them. Despite tremendous advances along the last 20 years some patients may remain without a defined etiology, some because lacking a correct molecular study but some awaiting definition of a new candidate gene. DSD diagnosis and therapy require pluridisciplinary teams (pediatritians, endocrinologists, biochemists, geneticists. Surgeons, radiologist, pathologists, psychologies and psychiatrists) (AU)

[Male pseudohermaphroditism]. / Seudohermafroditismo masculino.

Diagnosis of ambiguous genitalia in a newborn is an emergency that can be difficult to manage, not only because salt wasting entities must be ruled out, but also due to the importance of gender assignment before psychological gender is established. We report two cases of male pseudohermaphroditism, a true hermaphroditism and a 5-alfa-reductase deficiency. The physiology of sexual differentiation and diagnosis, as well as the management of these infants, are discussed.

Seudohermafroditismo masculino / Male pseudohermaphroditism

El abordaje de un recién nacido (RN) con genitales ambiguos es una urgencia de difícil manejo, no sólo urge el diagnóstico de entidades que podrían implicar una pérdida salina, sino también la asignación del sexo al RN antes de que éste fije su sexo psicológico. Presentamos 2 casos de seudohermafroditismo masculino, uno de ellos del tipo hermafroditismo verdadero y el otro secundario a un déficit de 5alfa-reductasa. Se analiza la fisiología de la diferenciación sexual, las entidades diagnósticas y el protocolo que hay que seguir

Diagnosis of ambiguous genitalia in a newborn is an emergency that can be difficult to manage, not only because salt wasting entities must be ruled out, but also due to the importance of gender assignment before psychological gender is established. We report two cases of male pseudohermaphroditism, a true hermaphroditism and a 5-alfa-reductase deficiency. The physiology of sexual differentiation and diagnosis, as well as the management of these infants, are discussed

[Diagnosis and surgical treatment for male pseudohermaphroditism in a multidisciplinary unit of intersexual conditions]. / Diagnóstico y tratamiento quirúrgico del pseudohermafroditismo masculino en una unidad multidisciplinaria de estados intersexuales.

The birth of a child with ambiguous genitalia represents a very stressing situation for the family, and afterwards has great social and psychological repercussion for the patient itself. Until now, the sex assignation is being done according to the phenotype. Now, with the molecular diagnosis of the genes that play a role in the sexual development, the assignation must also take into account the prognosis of response to androgens. The aim of this work is to review the 40 male pseudohermaphroditism cases controlled in our hospital and the genetic molecular diagnosis done in 19 cases, thus obtaining the certainty diagnosis. In 15 patients the mutations were located in the AR gene (androgen receptor). In 2 cases the mutation affected the SRD5A2 gene (deficiency of 5a-reductase) and in the other 2 cases it affected the HSD17BIII gene (deficiency of 17-ketoreductase). If the mutations affect the AR gene they must be assigned to the feminine sex, because of the impossibility of virilisation at puberty (lack of response to androgens). If the mutations are located in the other 2 genes they can be assigned to the masculine sex, since in puberty, they will present good response to androgens and will virilize. The molecular diagnosis offers us also the possibility to establish a prenatal diagnosis and to offer genetic advice.

Utilidad clínica de las determinaciones de IGF-I e IGFBP-3 / No disponible

No disponible

[Defects of adrenal steroidogenesis in patients with hirsutism]. / Defectos de la esteroidogénesis adrenal en pacientes con hirsutismo.

BACKGROUND: To determine the frequency and the type of adrenal steroidogenic abnormalities in hirsute women. SUBJECTS AND METHODS: ACTH test was performed during follicular phase in 127 hirsute and 40 normal (control) women. Before ACTH injection we measured in serum by RIA: 17-OH-pregnenolone (17-OH-P5), 17-OH-progesterone (17-OH-P4), androstenedione (AN), cortisol (CT), 11-deoxycortisol (DCT), dehydroepiandrosterone (DHEA) and its sulphate (DHEAS), total (TT) and free (FT) testosterone, oestradiol (E2), progesterone (PR), androstenediol glucuronide (AG), LH, FSH and prolactin. After 60 min of ACTH injection 17-OH-P5, 17-OH-P4, AN, DHEA, CT and DCT were measured. Net increment of stimulated steroids and the ratios 17-OH-P5/17-OH-P4, DHEA/AN, 17-OH-P4/CT, 17-OH-P5/CT and DCT/CT were calculated. Pelvic ultrasonographic exploration was done when irregular menses were reported. RESULTS: Up to 31% of the patients presented enzymatic defects in adrenal steroidogenesis. Diagnostic criteria for enzyme defects were established. Late-onset 21-hydroxylase deficiency was diagnosed in 6 (4.5%) patients, HLA typing of these patients demonstrated that 4 out of 6 had B14-DR1. Sixteen women (12.6%) displayed a 17-OH-P4 response and the net increment 2 SD above the normal mean concentration, which are diagnostic criteria for late-onset 21-hydroxylase deficiency carriers. We diagnosed a 3 beta-hydroxysteroid dehydrogenase defect when 17-OH-P5 and DHEA responses, their net increment and the 17-OH-P5/17-OH-P4 and 17-OH-P5/CT ratios were 2 SD above the normal mean after ACTH: 14 women were diagnosed. 11 beta-hydroxylase deficiency diagnosis was made when DCT response, its net increment and the DCT/CT ratio after ACTH were 2 SD above the normal mean: 7 women were detected. Associated biosynthetic defects were described. CONCLUSIONS: One third of our patients with hirsutism presented anomalous response to ACTH, consistent with enzymatic abnormalities in adrenal steroidogenesis.

Male pseudohermaphroditism with hypertension due to a 17alpha-hydroxylation deficiency.

A case of male pseudohermaphroditism aged 48 years with systemic hypertension and hypokalaemic alkalosis is described. Results of metabolic studies point to a 17alpha-hydroxylase deficiency demonstrated by low cortisol (0-56 mg/24 h), high corticosterone (270 mg/24 h) and 11-deoxycorticosterone (5 mg/24 h) secretion rates. Adrenocorticotrophin and gonadotrophin levels were markedly raised but plasma androstenedione (3 ng/dl), testosterone (17 ng/dl), oestrone (3 ng/dl) and oestradiol(1-8 ng/dl) were all low. Plasma aldosterone levels and secretion rates in urine were low and were surprisingly unaffected by dexamethasone therapy although low renin levels rose with a marked return of the erect posture effect. Therapeutic levels of dexamethasone were, however, followed by incipient renal failure.