Síndrome de Turner / Turner's Syndrome / Sindrome de Turner

Introducción: el síndrome de Turner es una enfermedad genética caracterizada por la pérdida total o parcial de un cromosoma X, siendo sus características fundamentales la talla baja, la disgenesia gonadal y hallazgos fenotípicos característicos. Tiene una amplia variabilidad en su forma de presentación. Grandes estudios epidemiológicos muestran que la morbilidad aumenta en mujeres con este síndrome, debido a una amplia gama de enfermedades asociadas, sobre todo cardiovasculares, que eleva la mortalidad de manera significativa. Objetivo: realizar una revisión de la literatura, en base a la presentación de un caso clínico, para recabar información sobre las ultimas pautas de manejo y presentar los nuevos objetivos de tratamiento. Conclusiones: el diagnóstico temprano es fundamental, y tiene características propias y criterios de sospecha según la etapa en la que se efectúa, el reto actual en el manejo de estas pacientes consiste en la formación de un equipo médico multidisciplinario, conformado por una amplia gama de especialistas para el adecuado seguimiento, con el fin de disminuir las complicaciones y ayudar a que la paciente alcance sus objetivos para una vida plena. Se presenta el caso de una paciente con síndrome de Turner vista por el equipo médico en el Hospital Pediátrico del Centro Hospitalario Pereira Rossell, Montevideo-Uruguay.

Introduction: Turner's syndrome is a genetic disease characterized by total or partial loss of an X chromosome, its main features being low height, gonadal dysgenesis and characteristic phenotypic findings. It has a wide variability in its form of presentation. Large epidemiological studies show that morbidity increases in women with this syndrome, due to a wide range of associated diseases, especially cardiovascular disease, which significantly raises mortality. Objectives: to carry out a review of the literature, based on a clinical case in order to gather information regarding the latest treatment guidelines and present the new treatment goals. Conclusions: early diagnosis is essential, and has its own characteristics and suspicion criteria according to the stage in which it is carried out. The present challenge regarding the management of these patients consists of the training of a multidisciplinary medical team made up of a wide range of specialists able to carry out proper follow-up, in order to reduce complications and help the patient live a full life. We present a case of a patient with Turner's syndrome assisted at the Pereira Rossell Hospital Center in Montevideo-Uruguay.

Introdução: a síndrome de Turner é uma doença genética caracterizada pela perda total ou parcial de um cromossomo X, sendo suas características fundamentais de baixa estatura, disgenesia gonadal e achados fenotípicos característicos. Tem uma ampla variabilidade em sua forma de apresentação. Consideráveis (grandes, amplos, extensos) estudos epidemiológicos mostram que a morbidade aumenta em mulheres com essa síndrome, devido a uma ampla gama de doenças associadas, especialmente cardiovasculares, o que aumenta significativamente a mortalidade. Objetivos: realizar uma revisão da literatura, a partir da apresentação de um caso clínico, reunir informações sobre as últimas diretrizes de tratamento e apresentar os novos objetivos do tratamento. Conclusões: o diagnóstico precoce é fundamental, e possui características próprias e critérios de suspeita de acordo com a etapa em que é realizado, o desafio atual na gestão desses pacientes consiste na formação de uma equipe médica multidisciplinar, formada por uma ampla gama de especialistas para o acompanhamento adequado, a fim de reduzir complicações e ajudar a paciente a alcançar uma vida plena. Apresentamos o caso de uma paciente com síndrome de Turner atendido pela equipe médica do Hospital Pediátrico do Centro Hospitalar Pereira Rossell, Montevidéu-Uruguai.

Body composition, but not insulin resistance, influences postprandial lipemia in patients with Turner's syndrome

ABSTRACT Objective: The aim of the present study was to examine the influence of body composition and insulin resistance on the magnitude of postprandial lipemia in patients with Turner's syndrome receiving oral versus transdermal estrogen replacement. Subjects and methods: Twenty-five patients with Turner's syndrome receiving oral or transdermal estrogen replacement were evaluated for body mass index, waist-to-hip and waist-to-height ratios, fasting glycemia, insulin, body composition (dual-energy X-ray absorptiometry), and postprandial lipid metabolism. For statistical analysis, we used parametric tests to compare numeric variables between the two subgroups. Results: We observed no difference in postprandial triglyceride levels between patients receiving oral versus transdermal hormone replacement therapy. The postprandial triglycerides increment correlated positively with the percentage of total fat mass (p=0.02) and android fat mass (p=0.02) in the transdermal group. In the oral estrogen group, a positive correlation was observed between the increment in postprandial triglycerides and waist-to-hip (p=0.15) and waist-to-height (p=0.009) ratios. No association was observed between the estrogen replacement route and insulin resistance evaluated by the homeostatic model assessment-insulin resistance (HOMA-IR) index (p=0.19 and p=0.65 for the oral and transdermal groups, respectively). Conclusion: We concluded that body composition and anthropometric characteristics possibly affect the extent of postprandial lipemia independently from the route of estrogen replacement.

Actualización en el manejo del síndrome de Turner en niñas y adolescentes: revisión de la literatura e Incorporación de recomendaciones de las nuevas guías clínicas / Update on the management of Turner syndrome in girls and adolescents: review of the literature and incorporation of recommendations of the new clinical guidelines

Turner syndrome (TS) is a common disorder (1/2.000 women) that affects multiple organs at different stages of life and needs a multidisciplinary approach. It can be present in women of all ethnicities and is caused by a monosomy of the X chromosome that causes a haploinsufficiency of certain genes. Its main features consist of specific but variables physical characteristics, congenital heart defects, renal anomalies, middle and inner ear diseases, skeletal alterations, and from the endocrinological point of view, short stature and ovarian insufficiency. Given the comorbidities associated with TS, it has been estimated that they have an increased risk of mortality (up to 3 times more) and a reduction in life expectancy of approximately 13 years. Depending on the genotype, the abnormalities can become very subtle, in these cases the diagnosis is late, when the adolescent consults, for example, for primary amenorrhea or an adult woman for infertility. Once the diagnosis is confirmed by a karyotype, these patients must remain in pediatric control in a continuous way to investigate associated pathologies in a timely manner, with periodic evaluations by specialists, such as otolaryngologists, cardiologists, neurologists and endocrinologists, among others. Numerous advances in the care of these patients gave rise to new guidelines published in 2017. In this article we will comment on the main conditions associated with TS and its specific etiology, we will mention what is relevant regarding the genotype-phenotype relationship in this syndrome and we will discuss the fundamental aspects of the control of the TS patient, with emphasis on the treatment of short stature and ovarian insufficiency, as well as the cardiovascular aspects and those related to fertility.

El Síndrome de Turner (ST) es una patología frecuente (1/2.000 mujeres) que afecta múltiples órganos en distintas etapas de la vida y necesita un enfoque multidisciplinario. Se produce por una monosomía del cromosoma X que provoca una haploinsuficiencia de determinados genes. Sus características principales consisten en un fenotipo característico pero variable, con presencia de cardiopatías congénitas, anomalías renales, enfermedades del oído medio e interno, alteraciones esqueléticas, y del punto de vista endocrinológico, talla baja e insuficiencia ovárica. Dadas las comorbilidades asociadas al ST, principalmente cardiovasculares (CV), presentan mayor mortalidad con respecto a la población general (hasta 3 veces más). Dependiendo del genotipo, las anomalías pueden llegar a ser muy sutiles, realizándose en estos casos el diagnóstico en forma tardía, cuando la adolescente consulte, por ejemplo, por amenorrea primaria o una mujer adulta por infertilidad. Una vez confirmado el diagnóstico mediante un cariotipo, estas pacientes deben permanecer en control endocrinológico pediátrico en forma continua hasta la transición hacia adultos, con el fin de pesquisar patologías asociadas en forma oportuna. Por ello requieren evaluaciones periódicas por especialistas, tales como otorrinolaringólogos, cardiólogos, neuropsiquiatras, entre otros. Numerosos avances en el cuidado de estas pacientes, dieron origen a nuevas guías publicadas el 2017. En este artículo comentaremos sobre las principales condiciones asociadas al ST y su etiología específica, mencionaremos lo relevante respecto a la relación genotipo-fenotipo en este síndrome y discutiremos los aspectos fundamentales del control de la paciente con ST, haciendo énfasis en el tratamiento de la talla baja y la insuficiencia ovárica, así como los aspectos CV y los relacionados a fertilidad.

Relación entre tratamiento con hormona de crecimiento y perfiles de personalidad en mujeres con diagnóstico de Síndrome de Turner / Relationship between growth hormone treatment and personality profiles in women diagnosed with Turner Syndrome

El objetivo del presente trabajo fue identificar la existencia de perfiles distintivos en las escalas de personalidad en relación con la aplicación o no de hormona de crecimiento en 73 mujeres adultas con diagnóstico de Síndrome de Turner de Latinoamérica. Para ello se administró, en formato online, el Inventario Clínico Multiaxial de Millon II y un cuestionario clínico para recabar datos sobre la realización o no de tratamiento con hormona de crecimiento durante el desarrollo con el fin de omparar ambos grupos. Los resultados encontrados muestran que el grupo que no realizó tratamiento con hormona de crecimiento obtiene medias más altas en casi la totalidad de las escalas de personalidad básicas y patológicas en comparación con el grupo que sírealizó tratamiento, siendo dicha diferencia significativa en la escala esquizotípica. Esta escala se asocia con necesidades afectivas mínimas, aislamiento social y apego empobrecido. Estos resultados podrían dar cuenta que el tratamiento con hormona de crecimiento sería un factor positivo para esta población, favoreciendo el desarrollo de características de personalidad más adaptativas en relación a lo social.

The aim of this study was to identify the existence of distinctive profiles on the personality scales in relation to the application or not of the growth hormone in 73 adult women diagnosed with Turner Syndrome in Latin America. For it was administered, in online form, the Millon Clinical Multiaxial Inventory II and a clinical questionnaire to collect data on the realization or non-treatment with growth hormone during development in order to compare both groups. The results show that the group did not make growth hormone treatment gets highest averages in nearly all of the basic and pathological personality scales compared to the group that if he completed treatment, being such significant difference in schizotypal scale. This scale is associatedwith minimal emotional needs, social isolation and impoverished attachment. These results might note that treatment with growth hormone could be a positive factorfor this population, favoring the development of more adaptive personality characteristics in relation to the social aspects.

Análisis de impacto presupuestal de somatropina para el tratamiento de la restricción del crecimiento en niñas con síndrome de Turner en Colombia / Orçamento somatropina análise de impacto para o tratamento de restrição do crescimento em meninas com síndrome de Turner na Colômbia

Tecnologías evaluadas: Somatropina. Población: Niñas entre 4 y 18 años de edad con restricción del crecimiento por síndrome de Turner en Colombia. Perspectiva: La perspectiva del presente AIP corresponde al tercero pagador, que en este caso es el Sistema General de Seguridad Social en Salud (SGSSS) en Colombia. Horizonte temporal: El horizonte temporal de este AIP en el caso base corresponde a un año. Adicionalmente se reportan las estimaciones del impacto presupuestal para los años 2 y 3, bajo el supuesto de la inclusión en el POS en el año 1. Costos incluidos: Costo promedio ponderado de la somatropina en Colombia; Costo de la dosis representativa de somatropina de una niña promedio con restricción del crecimiento por síndrome de Turner en Colombia. Fuente de costos: Precios de la somatropina reportados por SISMED. Escenarios: Escenario 1: Dado que la tecnología tiene efectividad decreciente en el tiempo se postula un escenario de adopción de 100% de la tecnología. Escenario 2: Debido a que hay barreras de implementación logísticas, administrativas y presupuestales se propone un escenario alternativo con niveles de adopción de 50% en el primer año, 75% en el segundo y 100% en el tercero. Resultados: El gobierno nacional deberá hacer un esfuerzo financiero de 27.9 mil millones COP en el primer año de adopción de la somatropina como tecnología para el tratamiento del ST y de 28.7 y 29.5 mil millones en cada uno de los dos años siguientes, asumiendo que a totalidad de las niñas con ST se les suministra el medicamento.(AU)

Indicaciones actuales para el uso de la hormona de crecimiento / Growth hormone treatment update

La baja talla en la infancia es una causa frecuente de derivación al endocrinólogo infantil, y corresponde la mayoría de las veces a variantes normales del crecimiento. Inicialmente la terapéutica con hormona de crecimiento humana estaba circunscripta a los niños que presentaban deficiencia de dicha hormona. A partir de la producción de la hormona recombinante humana por ingeniería genética se pudo ampliar su uso a otras patologías.

Short stature in children is a common cause for referral to pediatric endocrinologists, corresponding most times to normal variants of growth. Initially growth hormone therapy was circumscribed to children presenting growth hormone deficiency. Since the production of recombinant human hormone its use had spread to other pathologies.

Utilización de la hormona de crecimiento en niños y adolescentes / [Use of growth hormone in children and adolescents].

Growth hormone treatment for children and adolescents with growth disorders has been used for more than five decades. Since 1985 recombinant human growth hormone (rhGH) is the only drug approved for treatment. In most of the countries rhGH is licensed for the treatment of children with growth hormone deficiency, Turner syndrome, Prader-Willi syndrome, chronic renal failure, and children born small for gestational age. The objective of the treatment is to improve the growth of these patients. The efficacy of rhGH treatment based on auxologic parameters has shown that growth response is variable and mostly dependent on each particular indication. Most of the reports on drug safety obtained from different databases that included thousands of patients, have shown that rhGH is a safe drug and that serious adverse events are rare. Regarding new indications to improve height in children, data on efficacy remains controversial, so we believe their ultimate indication must take into account potential risk versus benefits of this treatment.

Inducción de la pubertad en el síndrome de Turner / Induction of puberty in Turner's syndrome

Turner's Syndrome is the most frequent cause of female hypogonadism. Puberty must be pharmacologically induced in over 80 percent of these girls. Induction must be completed in a manner closest to physiology as possible. It is recommended that this induction be initiated at age 12 y.o. with natural estrogens (17 beta estradiol) in low dosage, equivalent to 1/10 a 1/8 of substitution dose, increasing stepwise and adding, after two years, a progestin to generate a menstruation. This revision shows various proposed schemes, as well as therapeutic alternatives available in Chile.

El síndrome de Turner es la causa más frecuente de hipogonadismo femenino. La pubertad tiene que ser inducida farmacológicamente en más del 80 por ciento de estas niñas. Esta inducción debe hacerse de la forma más fisiológica posible. Se recomienda iniciar esta inducción a los 12 años de edad cronológica, con estrógenos naturales (17 beta estradiol) en dosis bajas, equivalentes a 1/10 a 1/8 de la dosis de sustitución, aumentando la dosis por peldaños y agregando luego de dos años una progestina cíclica para generar una menstruación. En esta revisión se muestran los diversos esquemas propuestos en la literatura así como las alternativas terapéuticas existentes en Chile.

Estatura final (EF) em síndrome de Turner (ST): experiência de 76 casos acompanhados na Unidade de Endocrinologia Pediátrica do Hospital de Clínicas da Universidade Federal do Paraná / Final height (FH) in Turner syndrome (TS): experience of 76 cases followed at the Pediatric Endocrinology Unit, Hospital de Clinicas, Federal University of Paraná

Objetivo: Relatar estatura final (EF) em 76 pacientes com síndrome de Turner (ST). Materiais e métodos: Revisão de prontuários e avaliação dos escores z: da estatura alvo (EA) e EF segundo o NCHS/CDC/2000 e da EF segundo Lyon e cols. Resultados: Pacientes foram classificados em três grupos: A (n = 16), tratamento com estrogênios e progestágenos; B (n = 21), tratamento com oxandrolona; C (n = 39), tratamento com hormônio de crescimento (GH) e oxandrolona. Não houve diferença no escore z da EA entre os grupos e no escore z da EF entre A e B. O escore z da EF do grupo C foi maior que o dos outros grupos, maior que 2 DP segundo Lyon e no percentil 3 da curva NCHS/CDC. Análise de regressão múltipla mostrou tipo de tratamento (p < 0,001) e estatura materna (p = 0,02) como fatores que mais influenciaram a EF. Conclusão: GH mais OX e estatura materna contribuíram significativamente para aumento da EF na ST.

Objective: To report the final height (FH) of 76 patients with Turner syndrome (TS). Materials and methods: Review of the files and calculation of z scores: of target height (TH), and FH according to NCHS/CDC/2000 and FH according to Lyon and cols. Results: Patients were classified in three groups: A (n = 16), treatment with estrogens and progestogens; B (n = 21), treatment with oxandrolone (OX); C (n = 39), growth hormone (GH) plus OX. The z score of TH was not different among the groups and z score of FH was not different between A e B. Z score of FH of group C was greater than the other groups, > 2SDS of Lyon's curve and fitted on the 3rd percentile of NCHS/CDC. Multiple regression analysis showed type of treatment (p < 0.001) and maternal height (p = 0.02) as most influencing factors on FH. Conclusion: GH plus OX and maternal height contributed significantly to enhance FH of TS patients.

Síndrome de Turner con mosaicismo 45x/46xy: reporte de caso / Turner syndrome with 45x/46xy mosaicism: case report

El síndrome de Turner tiene una prevalencia de 1 en 1800 a 5000 recién nacidos vivos femeninos y se caracteriza por la ausencia total o parcial del segundo cromosoma X. Actualmente se reconoce gran variedad en la presentación citogenética, siendo la más común la monosomia del X (45,X) y entre las menos frecuentes los mosaicismos que incluyen fragmentos o la totalidad del cromosoma Y. La presencia de este cromosoma confiere características fenotípicas de androgenización y obliga a la realización de estudios de extensión en las pacientes. Se reporta un caso de síndrome de Turner con mosaicismo 45,X/46,XY, se revisa la literatura y se propone un protocolo de estudio complementario y manejo de las pacientes con este síndrome.

Turner syndrome has an estimated prevalence of 1 in 1800 to 5000 female births and is characterized by total or partial absence of the second chromosome X. It's now recognized that there is variation in the cyto-genetic presentaron of the syndrome, being the most common monosomy X (45, X) and among the least frequent it's found mosaicism including fragments or the entire Y chromosome. The presence of Y chromosome confers phenotypic characteristics of androgenization and requires extensión studies in patients. We report a case of Turner syndrome with mosaic 45,X/46,XY karyotype found by G-banding and aditionally, we propose a protocol for further studies and management of patients with this syndrome.

Bone age is the best predictor of growth response to recombinant human growth hormone in Turner’s syndrome.

BACKGROUND AND OBJECTIVES: Recombinant human growth hormone (rhGH) is approved for use in children with Turner’s syndrome (TS) in most industrialized countries and is recommended in the recently issued guidelines. We determined the growth responses of girls who are treated with rhGH for TS, with an aim to identify the predictors of growth response. MATERIALS AND METHODS: Fifty-six prepubertal girls with TS, documented by peripheral blood karyotype, were enrolled. All the patients received biosynthetic growth hormone therapy with a standard dose of 30 IU/m2/week. The calculated dose per week was divided for 6 days and given subcutaneously at night. RESULTS: This study showed that rhGH therapy provides satisfactory auxological results. Bone age delay is to be considered as a predictive factor which may negatively influence the effect of rhGH therapy on final height. The growth velocity in the preceding year is the most important predictor of rhGH therapy response. CONCLUSION: These observations help us to guide rhGH prescription, to reduce the risks and costs.

Turner syndrome and its variants.

Case records of female patients with karyotype proven turner syndrome were analyzed. 11 patients had classic Turner karyotype (Group 1) and 13 patients had karyotype suggestive of one of the variants of Turner syndrome (Group 2). There was a median difference of 3 years between the age of presentation and the age of diagnosis in Group 2. Out of the thirteen patients in Group 2, 4 had no clinical stigmata of Turner Syndrome; the rest (n=9) had one or more of the typical clinical stigmata of Turner Syndrome. One patient with a complex mosaic karyotype also had an intracranial medulloblastoma. One patient in each group had coarctation of the aorta. 5 patients in Group 1 and 3 patients in Group 2 had primary hypothyroidism and received levothyroxine. The median Thyroid Stimulating Hormone levels were significantly higher among patients in group 1 than in group 2.

Indução da puberdade e terapia de reposição hormonal na síndrome de Turner / Puberty induction and hormone replacement therapy in Turner's syndrome

O objetivo da indução da puberdade com estrogênio em meninas hipogonádicas é alcançar o desenvolvimento físico e psicológico semelhante ao que ocorre na puberdade natural. Neste trabalho, descrevem-se os principais protocolos para indução da puberdde e de terapia de reposição hormonal (TRH) utilizados na síndrome de Turner. Revisão da literatura, associada à experiência dos autores, serve de base para a elaboração deste artigo, que propõe diretrizes no manuseio dessas pacientes. Constatou-se na literatura que os tipos de estrogênio mais utilizados foram o etinilestradiol e os estrogênios eqüinos conjugados. O estrogênio percutâneo na forma de gel foi o tipo de reposição mais aceito pelas pacientes do nosso ambulatório de Endocrinologia. Considerando a importância do uso de estrogênio nas adolescentes com hipogonadismo, propõe-se um protocolo de indução de puberdade e de acompanhamento às pacientes com síndrome de Turner

The aim of pubertal induction with estrogen in hypogonadal girls is to achieve physical and psychological development similar to that in the natural puberty. In this study we describe the main protocols for puberty induction and hormonal replacement therapy (HRT) used in Turner syndrome. A review of the literature, associated with the authors'experience, is the basis of this paper which proposes guidelines for the treatment of these patients. We have observed in the literature that the estrogens most commonly used are ethinylestradiol and conjugated equine estrogens. Moreover, percutaneous estrogen gel was the type of replacement most frequently accepted by the patients in our Ambulatory of Endocrinology Clinic. Considering the importance of the use of estrogen for teenagers with hypogonadism, we propose a protocol for puberty induction and follow-up of patients with Turner syndrome

O hormônio de crescimento na síndrome de Turner: dados e reflexões: [revisão] / Growth hormone treatment inTurner syndrome: data and reflections: [review]

A baixa estatura é a principal característica na síndrome de Turner (ST). O agravo estatural na ST é precoce e torna-se mais evidente na puberdade. A haploinsuficiência do gene SHOX tem sido implicada como principal fator na definição da estatura de mulheres, no entanto, ainda que a maioria das pacientes não tenha deficiência do hormônio de crescimento, a terapia com GHr melhora a altura final. Recentemente, tem-se chamado a atenção para a associação entre GH e câncer. O risco de câncer nessas pacientes está associado à presença de fragmentos do cromossomo Y que pode levar ao desenvolvimento de gonadoblastoma. Dessa forma, a administração de GHr na ST deve ser feita com cautela. A investigação de seqüências do cromossomo Y deve ser realizada, bem como a gonadectomia profilática nos casos positivos, conferindo maior segurança ao tratamento.

Short stature is the major characteristic of Turner syndrome. The statural appeal is premature and become evident in the puberty. Haploinsuficiency of SHOX gene has been related as main factor on final height of these patients. Despite the majority of the patients are not growth hormone deficient, the GHr therapy improves the final height. Recently, a great number of publications have described the association between GH and cancer. The cancer risk, in these patients, is mainly associated with the presence of Y chromosome sequences that can lead to the gonadoblastoma development. In conclusion, the GHr therapy in ST patients deserves caution. The investigation of Y chromosome sequences should be performed as well as the prophylactic gonadectomy in the positive cases conferring confidence to the treatment.

Turner's syndrome: diagnosis and management with limited resources

Turner Syndrome or Bonnevie-Ulrich syndrome is a syndrome of gonadal dysgenesis characterized by sexual infantilism, short stature and somatic anomalies. These case reports are meant not only to describe the clinical features of Turners syndrome but also illustrate the challenges faced in the bid to diagnose this medical condition with the available limited diagnostic tools

Growth hormone in turner syndrome.

We assessed the effect of one year of therapy with recombinant Human Growth Hormone (rhGH) on growth velocity of 16 Indian girls with Turner Syndrome (TS) in a prospective, open trial. Patients received rhGH in a dose of 1 IU (0.3 mg)/kg/week. The mean pretreatment height was 117.1 cms (Z score minus 3.4), height velocity was 3.8 cm per year (Z score minus 2.4), and predicted height was 140 cm. At the end of therapy mean height was 123.9 (Z score minus 3.1), height velocity was 6.7 cm per year (Z score + 1.7), and the predicted height was 142.4 cm. The increment in height velocity with growth hormone therapy was statistically significant (P value = 0.001) and the mean increment in predicted height was 2.4 cm. Our study shows that girls with TS in India benefit from therapy with rhGH.

Growth hormone therapy.

Growth hormone (GH) therapy has revolutionized treatment of children with growth hormone deficiency (GHD). Improved height outcome with final height in the target height range has been achieved in these children. Identification of Creutzfeldt-Jakob disease, a deadly prion mediated disorder, in recipients of pituitary GH accelerated the transition from pituitary derived GH to recombinant GH. Once daily subcutaneous administration of the freeze-dried preparation at evening is the recommended mode of GH therapy. Studies have led to use of higher dose of GH for improving height outcome (0.33 mg/kg/week or 0.14 IU/kg/day) albeit at a significantly high cost. Growth velocity increases from 3-4 cm/year before therapy to 10-12 cm/year during the first two years of therapy and is maintained at 7-8 cm/year after a period of two years. Close follow-up with regular clinical and laboratory monitoring is essential for achieving a desirable height outcome. A theoretical unlimited supply has led to wide spread use of GH in a variety of disorders other than GHD. Initially started in children with Turner syndrome, GH has now been used in chronic renal failure, idiopathic short stature and intrauterine growth restriction besides a wide array of newly emerging indications.

Short stature and growth hormone.

Normal growth and development is a prime concern during childhood. Accurate assessment is essential for differentiating between normal and abnormal growth. Increased accessibility to growth hormone has equipped the pediatrician and pediatric endocrinologist to treat and improve growth in many clinical scenarios. At the same time, there is added responsibility to use this tool judiciously. This review summarizes the basics of proper growth assessment, differentiation of normal and abnormal growth causes of and works up of short stature, and delineation of indications for growth hormone treatment.

Efecto del tratamiento con estrogenos sobre el crecimiento en noñas con sindrome de Turner tratadas con hormona de crecimento / Effect of estrogen therapy on the growth of Turner syndrome in girls treated with growth hormone

Para analizar el efecto de los estrógenos sobre el crecimiento en niñas con ST tratadas con GH, se estudiaron veinticuatro pacientes divididas en dos grupos: Grupo1 (G1): 14 pacientes tratadas con GH que iniciaron estrógenos (IE) (Premarínâ) a los 15.3ñ0.9 años. Grupo 2 (G2): 10 niñas no tratadas con GH que iniciaron Premarínâ a los 14.3ñ2.3 años. Se comparó la mejoría en el SDS de talla en períodos de tiempo comparables de tratamiento con GH y con GH más estrógenos en el G1, y durante el tratamiento con estrógenos entre ambos grupos. Se calculó la ganancia de talla durante el tratamiento con estrógenos (talla final talla proyectada al IE). En el G1 se efectuó regresión múltiple entre la ganancia de talla durante el tratamiento con GH (talla final- talla proyectada al inicio de la GH) y la edad ósea de IE, la edad cronológica de IE, y el tiempo de tratamiento con GH previo al IE. En el G1 la mejoría en el SDS de talla fue 0.43ñ0.11 cm durante la GH y 0.59ñ0.18 cm durante la GH más estrógenos (p=0.064). La mejoría en el SDS de talla durante el tratamiento con estrógenos en el G2 fue 0,14ñ0,19 cm, menor que en el G1 (p<0.001). La ganancia de talla durante el tratamiento con estrógenos fue 5.3ñ1.8 cm en el G1 y .6ñ4.2 cm en el G2 (p=0.001).En el G1 el mayor factor predictor de la ganancia de talla durante el tratamiento con GH fue el tiempo de tratamiento previo al IE (r=0.89).