Condrodisplasia «punctata» rizomélica clásica: comunicación de dos casos con las formas grave y benigna de la afección / Classic rhizomelic chondrodysplasia punctata: report of 2 cases with two forms of the disease

La condrodisplasia punctata rizomélica clásica (RCDP) es una rara enfermedad multisistémica autosómica recesiva, debida a una alteración del metabolismo peroxisomal que determina una deficiencia de la biosíntesis de plasmalógenos y de la alfaoxidación del ácido fitánico. Se caracteriza por la presencia desde el nacimiento de un acortamiento proximal de las extremidades, calcificaciones periarticulares, dismorfia facial, retraso del desarrollo y mortalidad precoz. Se presentan dos casos de RCDP clásica, o tipo I, con las dos formas clínicas de presentación, grave o mortal y leve o benigna, en relación con la existencia de actividad enzimática residual, y se revisan sus principales aspectos clínicos(AU)

Classic rhizomelic chondrodysplasia punctata (CRCP) is a rare multisystem disease, autosomal recessive disorder. It is due because a peroxisomal metabolism alteration that determine deficiency of the plasmalogen biosynthesis and the alpha oxidation of phytanic acid. It is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, facial dysmorphia, developmental delay and early lethality. We present two cases of CRCP type I with two different forms of presentation, one severe and another one mild or bening, in relation with the residual enzyme activity and we revise the main clinical aspects(AU)

Estudios españoles de crecimiento: situación actual, utilidad y recomendaciones de uso / Growth spanish studies: the current situation, their effectiveness and recommendations for their use

La monitorización del crecimiento infantil tiene, además de su utilidad clínica para el seguimiento de la salud infantil, una utilidad social, como indicador de los avances de equidad en el mundo. En España ha habido una larga tradición en la realización de estudios de crecimiento. Recientemente, 5 grupos que han efectuado estudios de crecimiento en la última década en las poblaciones de Andalucía, Barcelona, Bilbao, Madrid y Zaragoza han fusionado sus datos, lo que ha dado lugar a los estudios transversales españoles 2008 y 2010, y al estudio longitudinal español 1978/2000. Estos estudios han demostrado que las diferencias regionales de crecimiento en España han desaparecido y que han tenido lugar cambios seculares en las últimas décadas, de modo que la talla adulta se ha acercado a la de otros países europeos y americanos, manteniéndose por debajo de algunos países del centro y norte de Europa. Se han observado también diferencias entre los estudios españoles y el estudio multicéntrico de la Organización Mundial de la Salud (OMS), debido, entre otras razones, a los diferentes criterios para la selección de la muestra, «poblacional» en los estudios españoles, y «socioeconómico» y «nutricional» en el estudio de la OMS. En el momento actual, para la población española, es adecuado utilizar como estándares de referencia los estudios españoles integrados, tanto el transversal como el longitudinal. Dada la existencia de tendencias seculares, sería deseable continuar realizando en el futuro estudios transversales prospectivos, homogéneos metodológicamente, representativos de las distintas regiones, con una periodicidad de 10-15 años (AU)

The child growth assessment is useful not only for the follow up of children health but also for social purposes, as an indicator of the equity advances in the world. In Spain there has been a long tradition in carrying out growth studies. During the last decade five Spanish research groups have conducted studies among the population of Andalucía, Barcelona, Bilbao, Madrid and Zaragoza. They have combined their data and have produced the «Transversal Spanish Studies 2008 and 2010» and the «Longitudinal Spanish Study 1978/2000». These studies have showed that in Spain the regional differences on growth have disappeared, and that this has had a secular trend in the last decades. The Spanish adult height has approached to other European and American countries, still below some Centre and North European countries. There are some differences between the Spanish growth studies and the multicentric World Health Organization (WHO) growth study. This is due, among other reasons, to the different criteria that are used for the sample selection. In Spain the studies are based on the «population» criteria, whereas the WHO study is based on the «socioeconomic» and «nutritional» criteria. Currently for the Spanish population is appropriate to use, as standard reference, the Spanish multicentric studies, which are the transversal as well as the longitudinal studies. Due to the recent secular trend, it would be convenient to carry out, in the future, prospective transversal growth studies, methodologically homogeneous, representatives of the different Spanish regions, and preferably made every ten to fifteen years (AU)

Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo / Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism

El pseudohipoparatiroidismo (PHP) comprende un grupo heterogéneo de enfermedades endocrinológicas que se caracterizan por la existencia de hipocalcemia, hiperfosfatemia y resistencia tisular a la hormona paratiroidea. Se distinguen diferentes formas de PHP. El PHP-Ia es la forma más frecuente y asocia resistencia hormonal múltiple, signos clínicos de osteodistrofia hereditaria de Albright (OHA) y mutaciones en el gen GNAS codificador de la proteína Gsα. El pseudoPHP (PPHP) asocia igualmente mutaciones en el gen GNAS pero cursa con OHA aislada sin anomalías endocrinas. Se presenta una familia con madre afecta de PPHP y dos hijas con PHP-Ia que comparten la misma mutación inactivadora en heterocigosis en el gen GNAS (Asn264LysfsX35). Se discute la diferente expresividad clínica así como el modelo de herencia dominante con impronta genética en el que el fenotipo de la descendencia está deteminado por el sexo del progenitor afecto (AU)

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gsα) mutations and signs of Albright́s hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also caused by GNAS mutations. We present a family that share the same inactivating GNAS mutation (Asn264LysfsX35); the mother being affected with PPHP and the two daughters with PHP-Ia. We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected (AU)

[Spanish growth studies: the current situation, their effectiveness and recommendations for their use]. / Estudios españoles de crecimiento: situación actual, utilidad y recomendaciones de uso.

The child growth assessment is useful not only for the follow up of children's health but also for social purposes, as an indicator of the equity advances in the world. In Spain there has been a long tradition in carrying out growth studies. During the last decade five Spanish research groups have conducted studies among the population of Andalucía, Barcelona, Bilbao, Madrid and Zaragoza. They have combined their data and have produced the "Transversal Spanish Studies 2008 and 2010" and the "Longitudinal Spanish Study 1978/2000". These studies have showed that in Spain the regional differences on growth have disappeared, and that this has had a secular trend in the last decades. The Spanish adult height has approached to other European and American countries, still below some Centre and North European countries. There are some differences between the Spanish growth studies and the multicentric World Health Organization (WHO) growth study. This is due, among other reasons, to the different criteria that are used for the sample selection. In Spain the studies are based on the "population" criteria, whereas the WHO study is based on the "socioeconomic" and "nutritional" criteria. Currently for the Spanish population is appropriate to use, as standard reference, the Spanish multicentric studies, which are the transversal as well as the longitudinal studies. Due to the recent secular trend, it would be convenient to carry out, in the future, prospective transversal growth studies, methodologically homogeneous, representatives of the different Spanish regions, and preferably made every ten to fifteen years.

[Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism.]. / Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo.

Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There are different forms of PHP. PHP-Ia is the most frequent form and shows multi-hormonal resistance, GNAS (Gs(α)) mutations and signs of Albright́s hereditary osteodystrophy (AHO). PseudoPHP (PPHP) have isolated AHO without hormonal resistance and it is also caused by GNAS mutations. We present a family that share the same inactivating GNAS mutation (Asn264LysfsX35); the mother being affected with PPHP and the two daughters with PHP-Ia. We discuss the different clinical phenotypes and the dominant mode of inheritance with genetic imprinting where the phenotype of the offspring depends on the sex of the parent affected.

The effects of growth hormone deficiency and growth hormone replacement therapy on intellectual ability, personality and adjustment in children.

Traditionally, it has been assumed that intellectual development in children with growth hormone deficiency (GHD) is distributed between ranges of a normal population based on the observation that it does not differ substantially from that of children of the same age. Nevertheless, few studies have investigated this assumption. This Spanish Collaborative study was prospectively planned with two main purposes: to study a possible influence of GHD on intelligence quotient (IQ), personality traits and adaptative capacity and to study the evolution of these parameters during substitution therapy with growth hormone (GH). Although the overall intellectual ability of children with GHD is comparable to that of a normal reference population, some areas such the motor-component scale (evaluated by McCarthy test) and performance IQ (evaluated by WISC-R) were below the mean at the beginning of the study, showing significant improvement during therapy. Emotional adjustment (normal at study start) also improved significantly during treatment. Females showed better adjustment capacity before and during GH therapy. Longer studies with an increased number of cases are needed to confirm these effects of GHD and its treatment in children.

[Spanish cross-sectional growth study 2008. Part I: weight and height values in newborns of 26-42 weeks of gestational age]. / Estudio transversal español de crecimiento 2008. Parte I: valores de peso y longitud en recién nacidos de 26-42 semanas de edad gestacional.

INTRODUCTION: Gestational age and neonatal anthropometric parameters are related to neonatal and postnatal morbidity and mortality. SUBJECTS AND METHODS: Weight and vertex-heel length were evaluated in 9.362 caucasian newborns (4.884 males and 4.478 females) products of single pregnancies, 26-42 weeks of gestational age, born between 1999 and 2002 in Vall d'Hebron (Barcelona, Spain) and Miguel Servet (Zaragoza, Spain) Children's Hospitals. RESULTS: Mean and standard deviation and percentile distribution values of weight, and length according to sex and gestational age are presented. A progressive increase in these parameters with gestational age and a sexual dimorphism was observed from the 30 week of gestational age onwards, with statistically-significant differences (p<0.01) from 35 weeks of gestational age. At 38 and 42 weeks of gestational ages these differences were 170 g, 160 g, 0.8 cm and 0.9 cm respectively. An increase in weight and length values in relation to previous Spanish studies (1987-1992) was also documented. CONCLUSIONS: A sexual dimorphism in intrauterine anthropometric growth parameters was observed. These parameters change with time and may be updated.

[Spanish cross-sectional growth study 2008. Part II. Height, weight and body mass index values from birth to adulthood]. / Estudio transversal español de crecimiento 2008. Parte II: valores de talla, peso e índice de masa corporal desde el nacimiento a la talla adulta.

INTRODUCTION: In developed countries a secular trend in growth has been reported. Our aim was to evaluate weight, height and body mass index (BMI) values in a Spanish population coming from Andalusia, Barcelona, Bilbao and Zaragoza, and to compare these values with those obtained before 1988 (BIB 88 and CAT 87 studies). SUBJECTS AND METHODS: Cross-sectional evaluation of height, weight and BMI in 32,064 subjects (16,607 males and 15,457 females) from birth to adulthood between the years 2000 and 2004. Three subpopulations were evaluated: a) 5,796 (2,974 males, 2,822 females) newborns at term from normal gestations; b) 23,701 (12,358 males; 11,343 females) children and adolescents 0.25-18 years old, and c) 2,567 (1,275 males, 1,292 females) young adults 18.1-24 years of age. All were healthy caucasians, and their parents from Spanish origin. The LSM method was used. RESULTS: Mean, standard deviation, Skewness index and percentiles values with a 0.25-0.5 year-period intervals from birth to adulthood are reported. As regards the data obtained previously in Spanish populations, an increase of 1.8 cm, 1.4 cm and 3.3 cm were observed in adult height for percentiles 3, 50 and 97 in males respect to BIB 88 and 2.5 cm, 3.3 cm and 3.8 respect to CAT 87. In females these values were 3.5 cm, 2.5 cm and 4.2 cm respect to BIB 88 and 3.5 cm, 3.1 cm and 3.9 cm respect to CAT 87. The corresponding values for weight, in males, were increased in 5.4 kg, 6.2 kg and 11.7 kg respect to BIB 88 and 6.7 kg, 6.3 kg and 10.1 kg respect to CAT 87; in females these increased were 1.7 kg, 2,2 kg and 8.3 kg respect to BIB 88 and 1.8 kg, 2.4 kg and 3.6 kg respect to CAT 87. The corresponding increased for BMI values, in males, were 2.0, 1.4 and 3.9 respect to BIB 88 and 0.1, 0.2 and 5.3 respect to CAT 87; in females these values were 0.9, 0.4 and 3.7 respect to BIB 88 and 1.8, 0.1 and 4 respect to CAT 87. In young adults, 25 and 30 BMI values correspond to percentiles 80 and 97 in males, and 85 and 97 in females. Mean values of adult height were similar to those observed in other longitudinal and cross-sectional Spanish, European, and American studies, but lower than those reported for German, Swedish and Netherlands populations. CONCLUSIONS: A secular trend of growth was observed in our population with a non-proportional increased of weight to height ratio (BMI) values, particularly for those corresponding to the 97 percentile. The need of periodical updates of growth data used in the evaluation of children and adolescents is required.

Estudio transversal español de crecimiento 2008. Parte I: valores de peso y longitud en recién nacidos de 26-42 semanas de edad gestacional / Spanish cross-sectional growth study 2008. Part I: weight and height values in newborns of 26-42 weeks of gestational age

Introducción: La edad gestacional, el peso y la longitud al nacer son factores relacionados con la morbilidad y mortalidad en el período neonatal y en la vida adulta. Sujetos y métodos: Valoración del peso y la longitud vértice-talón al nacer, en 9.362 recién nacidos vivos de raza caucásica (4.884 varones y 4.478 niñas) y de gestaciones únicas (26-42 semanas de edad gestacional), nacidos entre 1999 y 2002 en el Hospital Materno-Infantil Vall d’Hebron de Barcelona y en el Hospital Materno-Infantil Miguel Servet de Zaragoza. Resultados: Valores de la media y desviación estándar, y distribución percentilada del peso y de la longitud en los recién nacidos de ambos sexos según su edad gestacional. Existe un incremento progresivo con la edad gestacional y un dimorfismo sexual a partir de la semana 30 de gestación con diferencias estadísticamente significativas entre ambos sexos para ambos parámetros (p < 0,01) a partir de la semana 35 de edad gestacional. A las 38 y 42 semanas de edad gestacional los valores de la media para el peso y para la longitud son, respectivamente, 170 y 160 g, y 0,8 y 0,9 cm superiores en los varones que en las niñas. También se observó un incremento en los valores de la media de peso y longitud respecto a estudios previos (1987-1992). Conclusiones: Existe un dimorfismo sexual en el peso y la longitud de los recién nacidos pretérmino y a término. Estos parámetros cambian con el tiempo y deben ser revisados periódicamente (AU)

Introduction: Gestational age and neonatal anthropometric parameters are related to neonatal and postnatal morbidity and mortality. Subjects and methods: Weight and vertex-heel length were evaluated in 9.362 caucasian newborns (4.884 males and 4.478 females) products of single pregnancies, 26-42 weeks of gestational age, born between 1999 and 2002 in Vall d’Hebron (Barcelona, Spain) and Miguel Servet (Zaragoza, Spain) Children’s Hospitals. Results: Mean and standard deviation and percentile distribution values of weight, and length according to sex and gestational age are presented. A progressive increase in these parameters with gestational age and a sexual dimorphism was observed from the 30 week of gestational age onwards, with statistically-significant differences (p < 0.01) from 35 weeks of gestational age. At 38 and 42 weeks of gestational ages these differences were 170 g, 160 g, 0,8 cm and 0,9 cm respectively. An increase in weight and length values in relation to previous Spanish studies (1987-1992) was also documented. Conclusions: A sexual dimorphism in intrauterine anthropometric growth parameters was observed. These parameters change with time and may be updated (AU)

Estudio transversal español de crecimiento 2008. Parte II: valores de talla, peso e índice de masa corporal desde el nacimiento a la talla adulta / Spanish cross-sectional growth study 2008. Part II. Height, weight and body mass index values from birth to adulthood

Introducción: En las sociedades desarrolladas existe una aceleración secular del crecimiento. Entre los años 2000 y 2004 hemos valorado el crecimiento en una población caucásica española procedente de Andalucía, Barcelona, Bilbao y Zaragoza y hemos comparado los resultados con estudios españoles realizados antes de 1988 en poblaciones caucásicas de Bilbao (BIB 88) y Cataluña (CAT 87). Sujetos y métodos: Estudio transversal que valora el peso, la longitud y el índice de masa corporal (IMC) en 32.064 sujetos (16.607 varones y 15.457 mujeres) desde el nacimiento a la talla adulta: a) 5.796 son recién nacidos a término (2.974 varones y 2.822 mujeres) hijos de madres sanas, de gestaciones únicas; b) 23.701 son niños y adolescentes (12.358 varones y 11.343 mujeres) de 0,25 a 18 años de edad ambos inclusive, y c) 2.567 son adultos jóvenes (1.275 varones y 1.292 mujeres) de 18,1 a 24 años de edad. Todos estaban sanos, eran de raza caucásica y sus padres, de origen español. La distribución percentilada, el valor z-score y el diseño de las gráficas se ha realizado según el método LMS. Resultados: Se expresan los valores de la media, desviación estándar, coeficiente de Skewness y percentiles desde el nacimiento a la edad adulta, en intervalos de 0,25-0,50 años. Existe un dimorfismo sexual y un incremento en los valores de peso y talla de todos los percentiles respecto a los estudios BIB 88 y CAT 87. Los valores de los percentiles 3, 50 y 97 de la talla adulta son superiores en 1,8, 1,4 y 3,3 cm respecto a BIB 88, y en 2,5, 3,3 y 3,8 cm respecto a CAT 87 en los varones, y 3,5, 2,5 y 4,2 cm respecto a BIB 88 y 3,5, 3,1 y 3,9 cm respecto a CAT 87 en las mujeres. Los correspondientes valores de peso son 5,4, 6,2 y 11,7 kg superiores a los de BIB 88 y 6,7, 6,3 y 10,1 kg superiores a los de CAT 87 en los varones y 1,7, 2,2 y 8,3 kg superiores a los de BIB 88, y 1,8, 2,4 y 3,6 kg superiores CAT 87 en las mujeres. Los respectivos incrementos en el IMC son 2,0, 1,4 y 3,9 respecto a BIB 88 y –0,1, –0,2 y 5,3 respecto a CAT 87 en los varones y 0,9, 0,4 y 3,7 respecto a BIB 88 y –1,8, –0,1 y 4,0 respecto a CAT 87, en las mujeres. Los valores del IMC de 25 y 30 “en la edad adulta” corresponden a los percentiles 80 y 97 en los varones y 85 y 97 en las mujeres. En ambos sexos los valores de la talla media adulta son similares a los observados en otros estudios longitudinales y transversales españoles recientes y a los observados en estudios europeos y americanos, aunque inferiores a los de la población alemana, sueca y holandesa. Conclusiones: Con relación a estudios españoles previos, existe una aceleración secular de peso y talla, con un incremento desproporcionado en los valores del IMC correspondientes al percentil 75 o superiores, y de forma marcada en los del percentil 97. Este estudio muestra la necesidad de actualizar periódicamente los datos de referencia utilizados en la valoración del crecimiento durante la infancia y adolescencia (AU)

Introduction: In developed countries a secular trend in growth has been reported. Our aim was to evaluate weight, height and body mass index (BMI) values in a Spanish population coming from Andalusia, Barcelona, Bilbao and Zaragoza, and to compare these values with those obtained before 1988 (BIB 88 and CAT 87 studies). Subjects and methods: Cross-sectional evaluation of height, weight and BMI in 32,064 subjects (16,607 males and 15,457 females) from birth to adulthood between the years 2000 and 2004. Three subpopulations were evaluated: a) 5,796 (2,974 males, 2,822 females) newborns at term from normal gestations; b) 23,701 (12,358 males; 11,343 females) children and adolescents 0.25-18 years old, and c) 2,567 (1,275 males, 1,292 females) young adults 18.1-24 years of age. All were healthy caucasians, and their parents from Spanish origin. The LSM method was used. Results: Mean, standard deviation, Skewness index and percentiles values with a 0.25-0.5 year-period intervals from birth to adulthood are reported. As regards the data obtained previously in Spanish populations, an increase of 1.8 cm, 1.4 cm and 3.3 cm were observed in adult height for percetiles 3, 50 and 97 in males respect to BIB 88 and 2.5 cm, 3.3 cm and 3.8 respect to CAT 87. In females these values were 3.5 cm, 2.5 cm and 4.2 cm respect to BIB 88 and 3.5 cm, 3.1 cm and 3.9 cm respect to CAT 87. The corresponding values for weight, in males, were increased in 5.4 kg, 6.2 kg and 11.7 kg respect to BIB 88 and 6.7 kg, 6.3 kg and 10.1 kg respect to CAT 87; in females these increased were 1.7 kg, 2,2 kg and 8.3 kg respect to BIB 88 and 1.8 kg, 2.4 kg and 3.6 kg respect to CAT 87. The corresponding increased for BMI values, in males, were 2.0, 1.4 and 3.9 respect to BIB 88 and –0.1, –0.2 and 5.3 respect to CAT 87; in females these values were 0.9, 0.4 and 3.7 respect to BIB 88 and –1.8, –0.1 and 4 respect to CAT 87. In young adults, 25 and 30 BMI values correspond to percentiles 80 and 97 in males, and 85 and 97 in females. Mean values of adult height were similar to those observed in other longitudinal and cross-sectional Spanish, European, and American studies, but lower than those reported for German, Swedish and Netherlands populations. Conclusions: A secular trend of growth was observed in our population with a non-proportional increased of weight to height ratio (BMI) values, particularly for those corresponding to the 97 percentile. The need of periodical updates of growth data used in the evaluation of children and adolescents is required (AU)

Growth hormone therapy for short children born small for gestational age.

Children born small for gestational age may demonstrate continued growth retardation, resulting in persistent short stature. In the majority of the cases, this is linked with abnormal growth hormone secretion and also abnormal insulin-like growth factor levels. This review discusses the treatment of such children with recombinant human growth hormone. It illustrates the importance of starting therapy early, the dose-dependent response, and the advantages of continuous therapy and describes safety considerations.

Valoración clínica inicial y asignación de sexo / No disponible

No disponible

[Idiopathic short stature: definition and treatment]. / Talla baja idiopática: definición y tratamiento.

Short stature is the leading cause of consultation in Pediatric Endocrinology. Decreased growth velocity and abnormally short height are characteristic of several different nosologic entities. Some are well characterized, while others correspond to what is known as idiopathic short stature (ISS). ISS includes children who grow less than 2 SD of the mean height values corresponding to their peers of similar age and the same sex, in whom the known causes of short stature have been ruled out. The diagnosis of ISS does not include children who only present a constitutional delay in growth and development. Several clinical trials have demonstrated the efficacy of growth hormone (rhGH) treatment in achieving catch-up growth in these children. Therefore, ISS should be kept in mind in the diagnosis of patients with short stature and abnormal growth patterns, who may benefit from rhGH treatment.

Talla baja idiopática: definición y tratamiento / Idiopathic short stature: definition and treatment

La talla baja es el motivo de consulta más frecuente en las consultas de endocrinología pediátrica. Diferentes entidades nosológicas se caracterizan por una disminución de la velocidad de crecimiento y una talla anormalmente baja. Unas están bien caracterizadas; otras corresponden a la denominada talla baja idiopática (TBI). Ésta abarca a los niños que presentan un crecimiento por debajo de ­2 DE de los valores de la talla media correspondiente a los niños de su población de similar edad y sexo, en los que se han descartado las causas conocidas de talla baja. No incluye a aquellos niños que presentan únicamente un retraso constitucional del crecimiento y el desarrollo. Diferentes ensayos clínicos demuestran la eficacia del tratamiento con hormona de crecimiento (rhGH) para que estos niños consigan un crecimiento recuperador. Por ello, la TBI debe considerarse como una entidad que se debe tener en cuenta en el diagnóstico de un paciente con talla baja y patrón de crecimiento anómalo que puede beneficiarse del tratamiento con rhGH

Short stature is the leading cause of consultation in Pediatric Endocrinology. Decreased growth velocity and abnormally short height are characteristic of several different nosologic entities. Some are well characterized, while others correspond to what is known as idiopathic short stature (ISS). ISS includes children who grow less than 2 SD of the mean height values corresponding to their peers of similar age and the same sex, in whom the known causes of short stature have been ruled out. The diagnosis of ISS does not include children who only present a constitutional delay in growth and development. Several clinical trials have demonstrated the efficacy of growth hormone (rhGH) treatment in achieving catch-up growth in these children. Therefore, ISS should be kept in mind in the diagnosis of patients with short stature and abnormal growth patterns, who may benefit from rhGH treatment

[Study of bone mass in patients with growth hormone deficiency]. / Estudio de la masa ósea en el déficit de hormona de crecimiento.

OBJECTIVES: To evaluate bone mineral density by radiogrametric study of metacarpal bone diameter and cortical thickness in patients with growth hormone deficiency (GHD) before and during treatment with growth hormone (GH). PATIENTS AND METHODS: We studied 92 children with GHD (60 boys and 32 girls) divided into two groups: group I: 66 previously untreated patients (42 boys and 24 girls) aged between 3 and 14 years old; group II: 66 patients (42 girls and 24 boys) treated with GH and with a mean age of 10.2 +/- 3.1 years at treatment onset. Bone mass was studied indirectly by radiogrametry; the bone diameter and cortical thickness of the 2nd-3rd and 4th metacarpal bones were measured with a magnifying glass. As reference standards we used the Spanish longitudinal growth and development study (Andrea Prader Center, Zaragoza) in children aged between 0.5 and 9 years and the Swiss longitudinal standards in children aged 10 years of age and older. Statistical significance was set at p < 0.05. RESULTS: Group I (spontaneous evolution): cortical thickness values were below the mean with statistically significant differences al 11, 12 and 13 years of age in girls and at 12, 13 and 14 years in boys. Bone diameter was diminished compared with controls in all the study periods and was significantly reduced at 8, 9, 10 and 11 years of age in girls and at 8, 10, 11, 12, 13 and 14 years in boys. Group II: (effect of GH treatment): cortical regression analysis showed a sharp increase in the first year of treatment with a subsequent moderate increase, which was statistically significant. Bone diameter showed a similar pattern with a significant increase which was more pronounced in the first period. CONCLUSIONS: Children with GHD have decreased bone mass before initiation of treatment and therefore show deficient acquisition of peak bone mass, which in normal conditions occurs during in the first 4-5 years of life and during adolescence. GH replacement therapy leads to recovery of bone mass, which is more pronounced in the first year of treatment and prevents the progressive reduction that appears in untreated patients. Therefore, GH treatment plays an important role in peak bone mass acquisition in children with GHD.

Estudio de la masa ósea en el déficit de hormona del crecimiento / Study of bone mass in patients with growth hormone deficiency

Objetivos. Evaluar la masa ósea con la medida de la cortical y el diámetro metacarpianos en pacientes con déficit de hormona de crecimiento (GH), antes y durante el tratamiento con GH. Pacientes y métodos. Se ha estudiado una población de 92 niños (60 varones, 32 mujeres) con déficit de GH, distribuidas en los siguientes grupos: grupo I, 66 pacientes (42 varones, 24 mujeres) que no habían recibido previamente tratamiento entre 3-14 años de edad; grupo II, 66 pacientes (42 varones, 24 mujeres) tratadas con GH, edad de inicio del tratamiento 10,2 6 3,1 años. La masa ósea se evaluó indirectamente por radiogrametría midiendo en la radiografía de la mano la cortical y el diámetro de 3 metacarpianos con una lupa de aumento. Como estándar de referencia se tomaron los propios españoles del estudio longitudinal del Centro Andrea Prader entre los 0,5 y los 9 años y los suizos de 10 años en adelante. La significación estadística p < 0,05. Resultados. Grupo I (evolución espontánea): la cortical evoluciona por debajo de la media y está disminuida significativamente a los 11, 12 y 13 años en las chicas y 12, 13 y 14 años en los chicos. El diámetro se encuentra disminuido en relación a los controles durante todo el período de observación y está disminuido significativamente a los 8, 9, 10 y 11 años en las chicas y a los 8, 10, 11, 12, 13 y 14 años en los chicos. Grupo II (impacto del tratamiento con GH): la cortical en su ecuación de regresión muestra un incremento brusco durante el primer año de tratamiento y a partir de allí mantiene un crecimiento moderado; estadísticamente es significativo. El diámetro sigue una evolución similar, aumenta de manera significativa de forma más marcada durante el primer período. Conclusiones. Los niños con déficit de GH, presentan un descenso de la masa ósea antes de iniciar el tratamiento, y por lo tanto, una adquisición deficiente del pico de masa ósea, que ocurre normalmente durante los primeros 4 y 5 años y durante la adolescencia. El tratamiento sustitutivo con GH provoca una recuperación de la masa ósea, más intensa durante el primer año de tratamiento y evita el deterioro progresivo que se aprecia en los pacientes no tratados y así desempeña un papel importante en la adquisición del pico de masa ósea en los niños con déficit de GH

Objectives. To evaluate bone mineral density by radiogrametric study of metacarpal bone diameter and cortical thickness in patients with growth hormone deficiency (GHD) before and during treatment with growth hormone (GH). Patients and methods. We studied 92 children with GHD (60 boys and 32 girls) divided into two groups: group I: 66 previously untreated patients (42 boys and 24 girls) aged between 3 and 14 years old; group II: 66 patients (42 girls and 24 boys) treated with GH and with a mean age of 10.2 6 3.1 years at treatment onset. Bone mass was studied indirectly by radiogrametry; the bone diameter and cortical thickness of the 2nd-3rd and 4th metacarpal bones were measured with a magnifying glass. As reference standards we used the Spanish longitudinal growth and development study (Andrea Prader Center, Zaragoza) in children aged between 0.5 and 9 years and the Swiss longitudinal standards in children aged 10 years of age and older. Statistical significance was set at p < 0.05. Results. Group I (spontaneous evolution): cortical thickness values were below the mean with statistically significant differences al 11, 12 and 13 years of age in girls and at 12, 13 and 14 years in boys. Bone diameter was diminished compared with controls in all the study periods and was significantly reduced at 8, 9, 10 and 11 years of age in girls and at 8, 10, 11, 12, 13 and 14 years in boys. Group II: (effect of GH treatment): cortical regression analysis showed a sharp increase in the first year of treatment with a subsequent moderate increase, which was statistically significant. Bone diameter showed a similar pattern with a significant increase which was more pronounced in the first period. Conclusions. Children with GHD have decreased bone mass before initiation of treatment and therefore show deficient acquisition of peak bone mass, which in normal conditions occurs during in the first 4-5 years of life and during adolescence. GH replacement therapy leads to recovery of bone mass, which is more pronounced in the first year of treatment and prevents the progressive reduction that appears in untreated patients. Therefore, GH treatment plays an important role in peak bone mass acquisition in children with GHD

[Study of bone mass in Turner syndrome]. / Estudio de la masa ósea en el síndrome de Turner.

OBJECTIVES: To evaluate bone mass in patients with Turner syndrome by measuring metacarpal cortical thickness and bone diameter before and after treatment with oxandrolone, growth hormone (GH) and estrogens. PATIENTS AND METHODS: We studied 42 girls with Turner syndrome divided into the following groups: group I: 31 patients aged between 3 and 15 years who were not treated before the study; group II: 15 patients treated with GH at start ages of between 5.2-14.8 years; group III: 17 patients treated with oxandrolone at start ages of between 5.3 and 15.2 years; group IV: 17 patients treated with estrogens and divided in different subgroups: IVa: seven patients treated with GH and estrogens at start ages of between 6.1 and 12.9 years; IVb: five patients treated with oxandrolone and estrogens at start ages of between 13.4 and 17.4 years, and IVc: five patients treated with oxandrolone, GH and estrogens at start ages of between 10.3 and 16.1 years. Bone mass was evaluated by a radiogrammetric method that measures the cortical thickness and bone diameter of three metacarpal bones with a magnifying glass. The results are expressed in SD according to Spanish longitudinal reference standards (Andrea Prader Center of Growth and Development) from 0.5 to 9 years of age and to Swiss standards from the age of 10 years onwards. Statistical significance was set at p < 0.05. RESULTS: Group I (spontaneous development): cortical development was below the mean and was significantly diminished at the ages of 9, 13 and 14 years; bone diameter was decreased in relation to controls throughout the study period; group II (impact of GH treatment): cortical thickness showed a nonsignificant increase of 0.6 SD from baseline to years 3-4 of treatment and diameter increased by 0.5 SD from baseline to year 4 of treatment; group III (impact of oxandrolone): cortical thickness increased from -0.8 SD before treatment to 0.0 SD at years 2 and 3 of treatment; bone diameter increased from -1.5 SD at baseline to -1 SD at 3 years of treatment; group IV (impact of treatment with estrogens); IVa: cortical thickness and bone diameter increased; IVb: cortical thickness increased but bone diameter was unchanged; IVc: both cortical thickness and bone diameter increased. CONCLUSIONS: The results of this study show that cortical thickness and bone diameter are decreased in untreated girls with Turner syndrome; cortical thickness was significantly decreased at the ages of 9, 13 and 14 years, while bone diameter was diminished at all ages, suggesting the presence of osteopenia in these patients. GH treatment produced a nonsignificant increase in cortical thickness and bone diameter. Oxandrolone treatment showed a positive effect on bone mass during the first few years of therapy. Because of the small number of patients, conclusions cannot be reached on the effectiveness of estrogens.

Estudio de la masa ósea en el síndrome de Turner / Study of bone mass in Turner syndrome

Los cuidados paliativos son esenciales en las unidades de cuidados intensivos pediátricos (UCIP). Dada la frecuencia de la muerte en las UCIP y la presencia de condiciones médicas que amenazan la vida del niño mientras este está ingresado, existe una necesidad de que el pediatra esté preparado para proporcionar cuidados paliativos, con independencia de los tratamientos curativos. En este artículo se revisan algunos temas, como el proceso de toma de decisiones en la UCIP, las necesidades psicosociales del personal sanitario y la vulnerabilidad al burnout, y los sentimientos y actitudes del personal sanitario ante la muerte del niño. Se proporcionan recomendaciones sobre cómo actuar cuando un niño muere, para concertar reuniones post mortem con los padres y para llevar a cabo el seguimiento del duelo, y se sugieren estrategias que pueden ayudar a afrontar las múltiples pérdidas que experimenta el pediatra de la UCIP

Palliative care is essential in the pediatric intensive care unit (PICU). Because of the mortality rates and the presence of life-threatening conditions in children admitted to the PICU, pediatricians must be prepared to provide palliative care independently of cure-directed therapies. The present article reviews certain issues, including the decision- making process in the PICU, psychosocial needs and susceptibility to burnout among PICU staff, and the emotions and attitudes of the staff when a child dies. We provide some guidelines on how to act when a child dies, how to meet with parents after the child’s death and how to follow- up parental bereavement. Strategies that can help PICU pediatricians to cope with the numerous loses they experience are suggested

Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene.

Mutations in the GHRH receptor (GHRHR) gene (GHRHR) are emerging as a common cause of familial isolated growth hormone deficiency (IGHD) type IB. The use of gonadotropin-releasing hormone (GnRH) analogues has been advocated as a tool to delay puberty in patients with isolated GH deficiency (IGHD), allowing longer time for the beneficial effect of exogenous human GH (hGH) treatment on growth. We describe two male siblings with IGHD due to a homozygous missense GHRHR mutation who, because they were started on hGH therapy at different ages, presented with different height SDS at the onset of puberty and therefore had different predicted target heights. The shorter brother was treated with GnRH analogue plus hGH for 3 years, whereas the other brother received only hGH. Despite different predicted heights at the onset of puberty, they attained similar final heights. We conclude that in patients with IGHD, GnRH analogue treatment should be considered to delay puberty and obtain a maximal growth response if hGH treatment is started in late childhood and the predicted height at puberty onset is below the genetic target.