A cross-sectional study of cryptorchidism in children: testicular volume and hormonal function at 18 years of age.

PURPOSE: To evaluate the relationship between unilateral or bilateral criptorchidism, patient age, primary location of the gonad and modality of treatment with testicular volume and hormonal status at 18 years in patients diagnosed and treated for cryptorchidism during childhood. MATERIALS AND METHODS: Testicular volume, LH, FSH, and testosterone were evaluated in 143 young men at 18 years treated in childhood for unilateral (n=103) or bilateral (n=40) cryptorchidism. RESULTS: Unilateral cryptorchidism: Location of testis was prescrotal in 36 patients, inguinal in 52 and non-palpable in 15. The mean volume was 9.7 mL compared to 16.2 L. for the spontaneously descended testicle in unilateral cryptorchidism. However, 22 patients who received HCG had a significantly bigger testis (11.8 mL.) than those treated with primary surgery (9.2 mL). The results showed a significant positive correlation between testicular volume and patient age at treatment. Bilateral cryptorchidism: Location of testis was prescrotal in 34 cases, inguinal in 40 and 6 patients with non-palpable testicles. Mean volume at 18 years was 12.9 mL, greater than unilateral cryptorchid testis (9.7 mL) but smaller than healthy contralateral in unilateral cases (16.2 mL). There were significant differences in the testicular growth for bilateral patients with testicular descent after being treated with HCG (14.4 mL) in respect with those untreated (11.1 mL) or those who underwent primary surgery (11.4 mL). There was a significant positive correlation between the testicular volume and palpable (12.4 mL) or non-palpable testis (10.4 mL). There was a correlation between unilateral or bilateral cryptorchidism and levels of FSH. CONCLUSIONS: Testicular volume and hormonal function at 18 years for patients diagnosed and treated for cryptorchidism during childhood are strongly influenced by whether the undescended testis was unilateral or bilateral. Location of the testes at diagnosis or age of initial treatment exerts no definite effect on testicular volume improvement r hormonal levels at 18 years of age.

A cross-sectional study of cryptorchidism in children: testicular volume and hormonal function at 18 years of age

Purpose To evaluate the relationship between unilateral or bilateral criptorchidism, patient age, primary location of the gonad and modality of treatment with testicular volume and hormonal status at 18 years in patients diagnosed and treated for cryptorchidism during childhood. Materials and Methods Testicular volume, LH, FSH, and testosterone were evaluated in 143 young men at 18 years treated in childhood for unilateral (n=103) or bilateral (n=40) cryptorchidism. Results Unilateral cryptorchidism: Location of testis was prescrotal in 36 patients, inguinal in 52 and non-palpable in 15. The mean volume was 9.7 mL compared to 16.2 mL. for the spontaneously descended testicle in unilateral cryptorchidism. However, 22 patients who received HCG had a significantly bigger testis (11.8 mL.) than those treated with primary surgery (9.2 mL). The results showed a significant positive correlation between testicular volume and patient age at treatment. Bilateral cryptorchidism Location of testis was prescrotal in 34 cases, inguinal in 40 and 6 patients with non-palpable testicles. Mean volume at 18 years was 12.9 mL, greater than unilateral cryptorchid testis (9.7 mL) but smaller than healthy contralateral in unilateral cases (16.2 mL). There were significant differences in the testicular growth for bilateral patients with testicular descent after being treated with HCG (14.4 mL) in respect with those untreated (11.1 mL) or those who underwent primary surgery (11.4 mL). There was a significant positive correlation between the testicular volume and palpable (12.4 mL) or non-palpable testis (10.4 mL). There was a correlation between unilateral or bilateral cryptorchidism and levels of FSH. Conclusions Testicular volume and hormonal function at 18 years for patients diagnosed and treated for cryptorchidism during childhood are strongly influenced by whether the undescended testis was unilateral or bilateral. Location of the testes at diagnosis or ...

Talla baja idiopática. Revisión y puesta al día / Idiopathic short stature. A literature review and update

Con la denominación de talla baja idiopática (TBI) se agrupan una serie de entidades clínicas de etiología desconocida que tienen en común un retraso crónico de crecimiento con talla inferior a −2 desviaciones estándar (DE), con preservación de la armonía entre los segmentos corporales y en las que, en su evolución espontánea, las expectativas de talla adulta son inferiores a −2 DE. Es un diagnóstico de exclusión que exige una evaluación clínica, bioquímica, hormonal y molecular minuciosa con el objetivo de descartar cualquier etiología conocida del retraso de crecimiento, especialmente el retraso constitucional del crecimiento y desarrollo (RCCD). La TBI es un diagnóstico frecuente entre los pacientes que consultan por retraso de crecimiento, existiendo lagunas y controversias sobre su abordaje diagnóstico y terapéutico. Este documento de consenso recoge información actualizada sobre la definición, diagnóstico y tratamiento de la TBI, y aporta datos y recomendaciones que no han sido contemplados en documentos anteriores (AU)

Idiopathic short stature (ISS) refers to all clinical conditions involving an alteration of growth (height <−2 SD) of unknown cause, with preservation of proportionality among body segments, with the expectation of adult height < −2 SDS, and in which a diagnosis of constitutional delay of growth and development has been previously ruled out. ISS is an exclusion diagnostic which requires clinical, biochemical, hormonal and molecular studies in order to rule out all known causes of growth retardation and short stature.ISS is a frequent diagnosis among children with short stature. Despite its frequency, there is still controversy on the best diagnostic and therapeutic approach when treating patients with ISS. This consensus document contains updated information on the definition, diagnosis and treatment of ISS, and provides new data and recommendations that have not been addressed in previous documents (AU)

[Idiopathic short stature. A literature review and update]. / Talla baja idiopática. Revisión y puesta al día.

Idiopathic short stature (ISS) refers to all clinical conditions involving an alteration of growth (height<-2 SD) of unknown cause, with preservation of proportionality among body segments, with the expectation of adult height < -2 SDS, and in which a diagnosis of constitutional delay of growth and development has been previously ruled out. ISS is an exclusion diagnostic which requires clinical, biochemical, hormonal and molecular studies in order to rule out all known causes of growth retardation and short stature. ISS is a frequent diagnosis among children with short stature. Despite its frequency, there is still controversy on the best diagnostic and therapeutic approach when treating patients with ISS. This consensus document contains updated information on the definition, diagnosis and treatment of ISS, and provides new data and recommendations that have not been addressed in previous documents.

Talla baja idiopática / No disponible

No disponible

Relevance of herniography for accurate diagnosis of patent processus vaginalis in cryptorchidism.

OBJECTIVE: To clarify the role of peritoneography in assessing the patency of processus vaginalis (PV) in pediatric patients diagnosed with cryptorchidism. MATERIALS AND METHODS: We designed a prospective clinical trial to evaluate the patency of PV in boys presenting cryptorchidism. Herniography was performed in 310 prepubertal boys. Data about the morphology of PV was compared with operative findings in those surgically treated patients. Retractile and ectopic testes were excluded from the study. RESULTS: Of the 376 undescended testes (310 patients), 281 cases were associated with an obliterated PV. Herniography revealed 95 cases of open PV in cryptorchid boys. The 244 normally descended testes had associated patent processus vaginalis in only 31 cases. CONCLUSIONS: Herniography is the most relevant procedure for accurate diagnosis of persistent PV. The persistence of PV was significantly more frequent when the position of the testes is more cranial. The incidence of an open PV decreases with age.

Relevance of herniography for accurate diagnosis of patent processus vaginalis in cryptorchidism

OBJECTIVE: To clarify the role of peritoneography in assessing the patency of processus vaginalis (PV) in pediatric patients diagnosed with cryptorchidism. MATERIALS AND METHODS: We designed a prospective clinical trial to evaluate the patency of PV in boys presenting cryptorchidism. Herniography was performed in 310 prepubertal boys. Data about the morphology of PV was compared with operative findings in those surgically treated patients. Retractile and ectopic testes were excluded from the study. RESULTS: Of the 376 undescended testes (310 patients), 281 cases were associated with an obliterated PV. Herniography revealed 95 cases of open PV in cryptorchid boys. The 244 normally descended testes had associated patent processus vaginalis in only 31 cases. CONCLUSIONS: Herniography is the most relevant procedure for accurate diagnosis of persistent PV. The persistence of PV was significantly more frequent when the position of the testes is more cranial. The incidence of an open PV decreases with age.

[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

[Incidence and clinical manifestations at onset of type 1 diabetes mellitus in Galicia (Spain): 2001-2002]. / Incidencia y características clínicas al manifestarse la diabetes mellitus tipo 1 en niños de Galicia (España, 2001-2002).

OBJECTIVE: To determine the epidemiology, clinical manifestations and laboratory results at onset of type 1 diabetes mellitus in children aged 0-14 years from January 2001 to December 2002. PATIENTS AND METHODS: All children younger than 14 years old living in Galicia (Spain) and admitted to one of the hospitals of the Galician health service with a diagnosis of type 1 diabetes mellitus from 2001-2002 were included. A questionnaire was administered to collect data on age, sex, place of residence, associated autoimmune disorders, family history, clinical manifestations before onset and their duration, and biochemical parameters at diagnosis (glycemia, HbA1c, pH and bicarbonate). RESULTS: A total of 109 children were diagnosed (48 girls and 61 boys). The annual incidence (per 100,000 pediatric inhabitants) was 17.6. A higher frequency was found in winter (33 %) and spring (26 %) than in autumn (21.3 %) and summer (20.3 %). Admissions were most frequent among 5-9 year-olds (40.3 %), followed by 10-14 year-olds (33 %) and 0-4 year-olds (26.6 %). The most frequent clinical manifestations were polyuria and polydipsia (95.8 %). Nycturia or enuresis and weight loss were also described. The mean duration of these symptoms was 25.4 days in the group of children aged between 10-14 years old, 21.7 days in those aged 5-9 years old and 13.6 days in those younger than 4 years old. In one-third of the patients, the initial presentation was ketoacidosis. CONCLUSIONS: The incidence of type 1 diabetes mellitus among Galician children is high. The interval between the onset of the first symptoms and diagnosis is long. In 31.7 % of the patients, the initial event was ketoacidosis.

Incidencia y características clínicas al manifestarse la diabetes mellitus tipo 1 en niños de Galicia (España, 2001-2002) / Incidence and clinical manifestations at onset of type 1 diabetes mellitus in Galicia (Spain): 2001-2002

Objetivo: Conocer las características epidemiológicas y clinicoanalíticas de los nuevos casos de diabetes mellitus tipo 1, en niños de 0 a 14 años durante los años 2001 y 2002. Pacientes y métodos: Se incluyeron todos los niños, residentes en nuestra Comunidad, que ingresaron en los Hospitales del Sergas. La recogida de datos se realizó durante el ingreso, según cuestionario que incluía la edad, sexo, procedencia, antecedentes de enfermedad autoinmune asociada y antecedentes familiares, síntomas previos al inicio y su duración, y parámetros bioquímicos al diagnóstico (glucemia, hemoglobina A1c [HbA1c], pH y bicarbonato). Resultados: Se diagnosticaron 109 niños, 48 niñas y 61 niños, con una incidencia de 17,6/100.000/año, de los cuales el 33 % lo hizo en invierno, el 26 % en primavera, el 21,3 en otoño y el 20,3 en verano. El 26,6 % de los ingresos fueron niños de 0-4 años, el 40,3% de 5-9 años y el 33 % de 10-14 años. Entre los síntomas presentes al diagnóstico el 95,8 % tuvo poliuria y polidipsia como síntomas principales, así como nicturia o enuresis y pérdida de peso, todos ellos con una duración media de 13,6 días en el grupo de 0-4 años; 21,7 días en el de 5-9 años y 25,4 días en el de 10-14 años. La cetoacidosis se presentó en un tercio de los casos. Conclusiones: Los niños gallegos tienen una elevada incidencia de diabetes mellitus tipo 1. El tiempo transcurrido entre los primeros síntomas y el diagnóstico se considera prolongado. En el 31,7 % la primera manifestación es la cetoacidosis

Objective: To determine the epidemiology, clinical manifestations and laboratory results at onset of type 1 diabetes mellitus in children aged 0-14 years from January 2001 to December 2002. Patients and methods: All children younger than 14 years old living in Galicia (Spain) and admitted to one of the hospitals of the Galician health service with a diagnosis of type 1 diabetes mellitus from 2001-2002 were included. A questionnaire was administered to collect data on age, sex, place of residence, associated autoimmune disorders, family history, clinical manifestations before onset and their duration, and biochemical parameters at diagnosis (glycemia, HbA1c, pH and bicarbonate). Results: A total of 109 children were diagnosed (48 girls and 61 boys). The annual incidence (per 100,000 pediatric inhabitants) was 17.6. A higher frequency was found in winter (33 %) and spring (26 %) than in autumn (21.3 %) and summer (20.3 %). Admissions were most frequent among 5-9 year-olds (40.3 %), followed by 10-14 year-olds (33%) and 0-4 year-olds (26.6 %). The most frequent clinical manifestations were polyuria and polydipsia (95.8 %). Nycturia or enuresis and weight loss were also described. The mean duration of these symptoms was 25.4 days in the group of children aged between 10-14 years old, 21.7 days in those aged 5-9 years old and 13.6 days in those younger than 4 years old. In one-third of the patients, the initial presentation was ketoacidosis. Conclusions: The incidence of type 1 diabetes mellitus among Galician children is high. The interval between the onset of the first symptoms and diagnosis is long. In 31.7 % of the patients, the initial event was ketoacidosis

A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.

Herein, we report mutation analysis of the LH receptor gene in 17 males with LH-independent precocious puberty, of which 8 were familial and 9 had a negative family history. A total of 7 different mutations (all previously reported) were detected in 12 patients. Among 10 European familial male-limited precocious puberty (FMPP) patients who had a LH receptor gene mutation, none had the Asp578Gly mutation, which is responsible for the vast majority of cases in the U.S. The restricted number of activating mutations of the LH receptor observed in this and other studies of FMPP strongly suggests that an activating phenotype is associated with very specific sites in the receptor protein. Clinical follow-up of the 5 patients who did not have LH receptor mutations shows that such cases most likely do not have true FMPP. LH receptor mutation analysis provides a sensitive tool for distinguishing true FMPP from other causes of early-onset LH-independent puberty in males.

The influence of patency of the vaginal process on the efficacy of hormonal treatment of cryptorchidism.

UNLABELLED: To investigate the effects of patency of the vaginal process (processus vaginalis testis) on the efficacy of hormonal treatment of cryptorchidism, we carried out a blind, controlled, prospective study in which all patients underwent inguinal herniography. The sample comprised 310 boys with true cryptorchidism (244 unilateral, 66 bilateral) and without symptomatic hernia/ hydrocele or other pathologies. Patients age ranged from 8 months to 11 years 5 months. All patients were treated with human chorionic gonadotropin (twice-weekly intramuscular injections for 5 weeks; total dose 2500 IU for patients less than 1-year-old, 5000 IU for 1- to 6-year-olds, 10000 IU for 6- to 11-year-olds). Following treatment, 37% (139/376) of the testes descended. The incidence of descent was highest for testes initially in caudal positions. Considering only non patent (i.e., normal) vaginal processes, the incidence of testis descent was 49.5% (139/281); none of the 95 testes associated with a patent vaginal process descended in response to hormone treatment. CONCLUSION: Prior detection of patent vaginal process by inguinal herniography permits identification of a significant subset of patients for whom hormone treatment will be ineffective. Our data suggest that this predictive procedure is 100% reliable.

[The Turner syndrome and cardiovascular changes]. / Síndrome de Turner y alteraciones cardiovasculares.

Nineteen consecutive patients with Turner's syndrome and different karyotypes underwent full cardiological evaluation (physical examination, electrocardiogram, chest X-ray and echocardiogram). Congenital heart disease was found in 26%. Other cardiovascular pathologies (long QT syndrome or systemic hypertension) were found in two patients. When compared with the general population, a higher incidence was present for all types of congenital heart diseases observed. Among cardiac anomalies in Turner's patients, aortic malformations (aortic coarctation and bicuspid aorta) were the most frequent, followed by patent ductus arterious and pulmonary valve stenosis. We have observed that the most severe malformations were preferably found with the 45,X karyotype. Pulmonary valve stenosis was found in a mosaicism 45,X/46,XX case. No anomaly was found in patients with X isochromosome. The ring pattern was not found in our series.

[Neuroendocrine changes induced by craniospinal radiation in children with acute lymphoblastic leukemia and medulloblastoma]. / Análisis de las alternaciones neuroendocrinas inducidas por radiación craneoespinal en niños con leucemia linfoblástica aguda y meduloblastoma.

In order to investigate effects produced by external cranial irradiation on neuroendocrine systems. GH secretion (elicited by oral clonidine and by GRF-29 as iv bolus) and TSH and PRL responses to an iv bolus of TRH were evaluated in children previously irradiated for LLA (n-7) or medulloblastoma (n-3). Growth velocity was also periodically evaluated. Three years after radiotherapy, while a normal GH response to clonidine challenge was observed in 60% of cases, growth velocity was impaired in 83.3% of them. GH release induced by GRF-29 was normal in another 60% of patients. Either basal TSH values or its' response to TRH were significantly increased in the three medulloblastomas, in spite of clinical and biochemical euthyroid status of these patients. Our data indicate that cranial radiotherapy produces functional neuroendocrine alterations; specificity and degree of these are dependent on the dose received. Therefore, to allow a suitable replacement hormonal therapy as soon as possible, this type of patients need a periodic evaluation of their endocrine status.

[Endocrine function following cranial radiotherapy of neoplasms in children]. / Función endocrina después del tratamiento radioterápico craneal de neoplasias en la infancia.

The effect of radiotherapy upon the diencephalo-hypophyseal axis was studied in 14 children that had received cranial radio-therapy (2,400 to 6,000 R) to treat different intracranial tumors. Several hormones were evaluated between 2 months and 3 years after radiotherapy was performed. 35.7 per 100 of the patients were deficient in growth hormone, 37.5 per 100 showed an alteration of prolactin secretion, and 28 per 100 an abnormal response to thyroid-stimulating hormone.