Engrosamiento del tallo hipofisario en niños y adolescentes con diabetes insípida central: causas y consecuencias / Thickening of the pituitary stalk in children and adolescents with central diabetes insipidus: Causes and consequences

Introducción: La diabetes insípida central (DIC) es una entidad poco frecuente en la edad pediátrica, siendo su etiología heterogénea. El objetivo de nuestro trabajo es demostrar que el seguimiento clínico y neurorradiológico de la región hipotálamo-hipofisaria, puede ayudar a establecer el diagnóstico etiológico de DIC y la presencia de otros déficits hormonales. Métodos: Se revisaron de forma retrospectiva 15 pacientes diagnosticados de DIC en un hospital pediátrico. Se analizaron las características clínicas y auxológicas; así como la valoración de la función adenohipofisaria junto con RM craneal de manera periódica. Resultados: La mediana de edad al diagnóstico fue de 9,6 años (rango: 1,3-15,9). El diagnóstico etiológico pudo establecerse en 9 de los 15 pacientes (germinomas: 7 e histiocitosis: 2). Tras una mediana de seguimiento de 5,5 años (rango: 1,6-11,8), los casos idiopáticos se redujeron a la mitad. Finalmente, los diagnósticos etiológicos fueron: germinoma 9 (60%), histiocitosis 3 (20%) y DIC idiopática 3 (20%). Existe una asociación estadísticamente significativa entre el engrosamiento del tallo y la etiología tumoral. El 67% desarrolló, al menos, una deficiencia hormonal adenohipofisaria, la mayoría en los dos primeros años de seguimiento. El déficit más prevalente fue el de hormona de crecimiento (60%). Conclusiones: En todos los pacientes con DIC se deberá realizar un control auxológico y hormonal, con especial atención, por su frecuencia, a la deficiencia de GH, y en aquellos con DIC idiopática se debería incluir una RM semestral, al menos durante los 2-3 primeros años después del diagnóstico, pues en nuestro estudio el 50% fueron diagnosticados de germinomas o histiocitosis en este periodo

Background: Central diabetes insipidus (CDI) is a rare disorder in children. The aetiology of CDI in childhood is heterogeneous. The aim of this study is to illustrate the importance of a careful clinical and neuro-radiological follow-up of the pituitary and hypothalamus region in order to identify the aetiology and the development of associated hormonal deficiencies. Methods: Clinical and auxological variables of 15 children diagnosed with CDI were retrospectively analysed in a paediatric hospital. Evaluations of adenohypophyseal function and cranial MRI were performed periodically. Results: The mean age at diagnosis of CDI was 9.6 years (range: 1.32-15.9). The aetiological diagnosis could be established initially in 9 of the 15 patients, as 7 with a germinoma and 2 with a histiocytosis. After a mean follow-up of 5.5 years (range: 1.6-11.8), the number of idiopathic cases was reduced by half. At the end of the follow-up, the aetiological diagnoses were: 9 germinoma (60%), 3 histiocytosis (20%), and 3 idiopathic CDI (20%). There is a statistically significant association between stalk thickening and tumour aetiology. At least one adenohypophyseal hormonal deficiency was found in 67% of cases, with the majority developing in the first two years of follow-up. Growth hormone deficiency (60%) was the most prevalent. Conclusion: The follow-up of CDI should include hormone evaluation with special attention, due to its frequency, to GH deficiency. In addition, a biannual MRI in an idiopathic CDI should be performed, at least during the first 2-3 years after diagnosis, as 50% of them were diagnosed with a germinoma or histiocytosis during this period

[Thickening of the pituitary stalk in children and adolescents with central diabetes insipidus: Causes and consequences]. / Engrosamiento del tallo hipofisario en niños y adolescentes con diabetes insípida central: causas y consecuencias.

BACKGROUND: Central diabetes insipidus (CDI) is a rare disorder in children. The aetiology of CDI in childhood is heterogeneous. The aim of this study is to illustrate the importance of a careful clinical and neuro-radiological follow-up of the pituitary and hypothalamus region in order to identify the aetiology and the development of associated hormonal deficiencies. METHODS: Clinical and auxological variables of 15 children diagnosed with CDI were retrospectively analysed in a paediatric hospital. Evaluations of adenohypophyseal function and cranial MRI were performed periodically. RESULTS: The mean age at diagnosis of CDI was 9.6 years (range: 1.32-15.9). The aetiological diagnosis could be established initially in 9 of the 15 patients, as 7 with a germinoma and 2 with a histiocytosis. After a mean follow-up of 5.5 years (range: 1.6-11.8), the number of idiopathic cases was reduced by half. At the end of the follow-up, the aetiological diagnoses were: 9 germinoma (60%), 3 histiocytosis (20%), and 3 idiopathic CDI (20%). There is a statistically significant association between stalk thickening and tumour aetiology. At least one adenohypophyseal hormonal deficiency was found in 67% of cases, with the majority developing in the first two years of follow-up. Growth hormone deficiency (60%) was the most prevalent. CONCLUSION: The follow-up of CDI should include hormone evaluation with special attention, due to its frequency, to GH deficiency. In addition, a biannual MRI in an idiopathic CDI should be performed, at least during the first 2-3 years after diagnosis, as 50% of them were diagnosed with a germinoma or histiocytosis during this period.

Fibroadenoma gigante de mama en adolescentes: procedimientos diagnóstico-terapéuticos / Giant breast fibroadenomas in adolescents: Diagnostic and therapeutic procedures

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Hiperplasia estromal seudoangiomatosa mamaria bilateral / Bilateral pseudoangiomatous stromal hyperplasia of the breast

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Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center.

Background The approach to the clinical management of Graves' disease (GD) is debatable. This study aimed to identify predictors of remission in pediatric GD. Methods A longitudinal study of 36 children and adolescents with GD followed from 1997 to 2017 at a single tertiary hospital was performed. Clinical and biochemical parameters, including comorbidities, treatment with anti-thyroid drugs (ATD) or definitive therapy (radioiodine [RIT] and thyroidectomy), and remission as the main outcome were collected. We performed a multivariable logistic regression analysis to identify likely predictors of remission. Results Among patients, most were female, in late puberty, with exuberant symptoms at onset. Eleven also suffered from Down syndrome (DS). Thirty-four patients (94%) started on methimazole from disease onset, and 25 (69%) received it as the only therapy, with a mean duration of 2.7±1.8 years. Six changed to RIT and three underwent thyroidectomy; no DS patient received definitive therapy. Remission was higher in DS patients (45% vs. 25%, p=0.24), but afterwards (3.9±2.5 vs. 2.3±1.4 years, p<0.05); there was no significance in relapsing (20% vs. 15%). Females were less likely to reach remission (p<0.05); serum free thyroxine at onset was higher (p<0.05) in patients who required definitive therapy. Thyroid-stimulating immunoglobulin (TSI) values normalized in exclusively ATD therapy, especially from 2 years on (p<0.05). Conclusions Males were more likely to achieve remission. TSI values may normalize in GD, notably from the second year of treatment. DS children may benefit with conservative management in GD.

Cariotipo 48, XXXY/49, XXXXY y sinóstosis radioulnar proximal / Karyptype 48, XXXY/49, XXXXY and proximal radioulnar synostosis

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Mutación en gen RET: tiroidectomía profiláctica y valoración postoperatoria / Mutation in RET gene: Prophylactic thyroidectomy and postoperative follow-up

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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

CONTEXT: Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients. Acrodysostosis is genetically heterogeneous because it results from heterozygous mutations in PRKAR1A or PDE4D, two key actors in the GPCR-cAMP-protein kinase A pathway. OBJECTIVE: Our objective was to identify the phenotypic features that distinguish the two genotypes causing acrodysostosis. PATIENTS AND METHODS: Sixteen unrelated patients with acrodysostosis underwent a candidate-gene approach and were investigated for phenotypic features. RESULTS: All patients had heterozygous de novo mutations. Fourteen patients carried a PRKAR1A mutation (PRKAR1A patients), five each a novel PRKAR1A mutation (p.Q285R, p.G289E, p.A328V, p.R335L, or p.Q372X), nine the reported PRKAR1A p.R368X mutation; two patients harbored a mutation in PDE4D (PDE4D patients) (one novel mutation, p.A227S; one reported, p.E590A). All PRKAR1A, but none of the PDE4D mutated patients were resistant to PTH and TSH. Two PRKAR1A patients each with a novel mutation presented a specific pattern of brachydactyly. One PDE4D patient presented with acroskyphodysplasia. Additional phenotypic differences included mental retardation in PDE4D patients. In addition, we report the presence of pigmented skin lesions in PRKAR1A and PDE4D patients, a feature not yet described in the acrodysostosis entity. CONCLUSIONS: All PRKAR1A and PDE4D patients present similar bone dysplasia characterizing acrodysostosis. Phenotypic differences, including the presence of resistance to GPCR-cAMP signaling hormones in PRKAR1A but not PDE4D patients, indicate phenotype-genotype correlations and highlight the specific contributions of PRKAR1A and PDE4D in cAMP signaling in different tissues.

Alteraciones endocrinológicas en 1.105 niños y adolescentes con síndrome de Down / Endocrinological abnormalities in 1, 105 children and adolescents with Down syndrome

Fundamento y objetivo: Los niños y adolescentes con síndrome de Down (SD) muestran una mayor incidencia de patología endocrinológica que la población control. Nuestro objetivo ha sido analizar la asociación de patología endocrinológica en una muestra de 1.105 pacientes con SD. Pacientes y método: En 1.105 pacientes (0 a 18 años de edad) con SD se analizó retrospectivamente la presencia de patología tiroidea y de diabetes mellitus a lo largo de la infancia y la adolescencia. Resultados: La revisión de 1.105 casos de pacientes con SD seguidos en nuestro Servicio muestra la presencia de endocrinopatías en 222 casos (216 casos de patología tiroidea [19,5%] y 6 casos de diabetes mellitus [0,45%]). El hipotiroidismo primario subclínico se manifestó en 168 pacientes, el hipotiroidismo primario congénito en 15 casos, el hipotiroidismo primario clínico en 24, presentándose hipertiroidismo en 5 casos. Junto a ello, el 16,9% de los pacientes presentaba criterios de obesidad y el 28,2% de sobrepeso. La prevalencia de comorbilidades endocrinológicas en pacientes con SD es elevada respecto a la población general. Conclusiones: El hipotiroidismo subclínico, de base autoinmune en un alto porcentaje de casos y sin predominio por el sexo femenino, es la patología más frecuente en esta serie de pacientes con SD. La elevada frecuencia de patología tiroidea y de diabetes mellitus tipo 1 en estos pacientes aconseja efectuar un seguimiento estrecho de la patología autoinmune en el control clínico de los niños y adolescentes con SD (AU)

Background and objective: Children and adolescents with Down syndrome (DS) show a greater prevalence of endocrinological abnormalities when compared with the general population. Our aim is to analyze endocrinological abnormalities in 1,105 patients with DS.Patients and methods: A review of 1,105 cases of children and adolescents with DS under care in our Department (ages between 0 and 18 years) analyzed retrospectively the presence of thyroid pathology and diabetes mellitus throughout development. Results: Our data indicate the presence of endocrinological abnormalities in 222 patients [216 with thyroid pathology (19.5%) and 6 cases with diabetes mellitus type 1 (0.45%)]. Subclinical primary hypothyroidism was present in 168 cases, congenital primary hypothyroidism in 15 cases, clinical primary hypothyroidism in 24 cases and 5 cases had hyperthyroidism. In addition, 16.9% of these patients exhibit criteria of obesity and 28.2% had overweight. The prevalence of endocrinological comorbidities in children and adolescents with DS is higher than in the general population.Conclusion: Subclinical primary hypothyroidism, due to autoimmune causes in most of the patients, without a higher incidence in females, is the most common endocrinological pathology associated with DS. The high frequency of thyroid pathology and diabetes mellitus type 1 in these patients should induce us to have a closer clinical control of children and adolescents with DS (AU)

[Endocrinological abnormalities in 1,105 children and adolescents with Down syndrome]. / Alteraciones endocrinológicas en 1.105 niños y adolescentes con síndrome de Down.

BACKGROUND AND OBJECTIVE: Children and adolescents with Down syndrome (DS) show a greater prevalence of endocrinological abnormalities when compared with the general population. Our aim is to analyze endocrinological abnormalities in 1,105 patients with DS. PATIENTS AND METHODS: A review of 1,105 cases of children and adolescents with DS under care in our Department (ages between 0 and 18 years) analyzed retrospectively the presence of thyroid pathology and diabetes mellitus throughout development. RESULTS: Our data indicate the presence of endocrinological abnormalities in 222 patients [216 with thyroid pathology (19.5%) and 6 cases with diabetes mellitus type 1 (0.45%)]. Subclinical primary hypothyroidism was present in 168 cases, congenital primary hypothyroidism in 15 cases, clinical primary hypothyroidism in 24 cases and 5 cases had hyperthyroidism. In addition, 16.9% of these patients exhibit criteria of obesity and 28.2% had overweight. The prevalence of endocrinological comorbidities in children and adolescents with DS is higher than in the general population. CONCLUSION: Subclinical primary hypothyroidism, due to autoimmune causes in most of the patients, without a higher incidence in females, is the most common endocrinological pathology associated with DS. The high frequency of thyroid pathology and diabetes mellitus type 1 in these patients should induce us to have a closer clinical control of children and adolescents with DS.

Regional fat distribution in adolescents with anorexia nervosa: effect of duration of malnutrition and weight recovery.

OBJECTIVE: This study addresses the influence of the duration of malnutrition and the effect of weight recovery on regional fat mass distribution in moderately malnourished adolescents with anorexia nervosa (AN). STUDY DESIGN: We measured total and regional fat mass and leptin levels in 42 restrictive AN female adolescents and 23 controls. AN patients, followed over 2 years, were divided into three groups: prolonged moderate malnutrition (PM; secondary amenorrhea for over 1 year, n = 14); SM, short period of moderate malnutrition (secondary amenorrhea for less than 1 year, n = 13); and R, recovered from AN (BMI, body mass index and menses recovered for over 6 months, n = 15). RESULTS: Total, trunk, and extremity fat mass were reduced in the PM and SM groups (P < 0.05), whereas only PM patients showed altered regional fat distribution with a low trunk to extremity fat ratio (P < 0.05). BMI increased after 12 months only in the SM group (P < 0.05), with menses resumption in 69% of these patients and BMI normalization at 24 months. Their regional fat distribution was similar to controls throughout the study. No difference in any parameter was found between the R group and the controls. CONCLUSION: Prolonged malnutrition, but not weight recovery, is associated with an abnormal regional fat distribution pattern in moderately malnourished AN adolescents.

Regional skeletal bone deficit in female adolescents with anorexia nervosa: influence of the degree of malnutrition and weight recovery in a two year longitudinal study.

AIM: To analyze changes in bone mineral density (BMD) and the effect of weight recovery on the restoration of bone mass in adolescent females with anorexia nervosa (AN) with moderate malnutrition. STUDY DESIGN: We evaluated lumbar and femoral BMD in 27 females with restrictive AN with malnutrition and amenorrhea for over (M+PA) or less than (M+SA) one year and 12 with normal nutrition and amenorrhea for over one year (N+PA) followed for 24 months. RESULTS: BMI remained below -1.5 SD in M+PA and increased at 24 months in M+SA. M+PA had low lumbar and femoral neck BMD at diagnosis, decreasing at 24 months. Lumbar BMD in N+PA and M+SA was reduced, with an increase in M+SA at 24 months. CONCLUSIONS: Moderate malnutrition in AN induces loss of bone mass at the lumbar and femoral levels. Weight gain and resumption of menses increases bone mass, especially in the lumbar spine.