Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study.

PURPOSE: To identify consensus aspects related to the diagnosis, monitoring, and treatment of short stature in children to promote excellence in clinical practice. METHODS: Delphi consensus organised in three rounds completed by 36 paediatric endocrinologists. The questionnaire consisted of 26 topics grouped into: (1) diagnosis; (2) monitoring of the small-for-gestational-age (SGA) patient; (3) growth hormone treatment; and (4) treatment adherence. For each topic, different questions or statements were proposed. RESULTS: After three rounds, consensus was reached on 16 of the 26 topics. The main agreements were: (1) diagnosis tests considered as a priority in Primary Care were complete blood count, biochemistry, thyroid profile, and coeliac disease screening. The genetic test with the greatest diagnostic value was karyotyping. The main criterion for initiating a diagnostic study was prediction of adult stature 2 standard deviations below the target height; (2) the main criterion for initiating treatment in SGA patients was the previous growth pattern and mean parental stature; (3) the main criterion for response to treatment was a significant increase in growth velocity and the most important parameter to monitor adverse events was carbohydrate metabolism; (4) the main attitude towards non-responding patients is to check their treatment adherence with recording devices. The most important criterion for choosing the delivery device was its technical characteristics. CONCLUSIONS: This study shows the different degrees of consensus among paediatric endocrinologists in Spain concerning the diagnosis and treatment of short stature, which enables the identification of research areas to optimise the management of such patients.

Influencia del tabaquismo en la resistencia bacteriana después de la profilaxis frente a infecciones urinarias recurrentes con antibiótico o con vacuna / The influence of smoking on bacterial resistance after vaccine or antibiotic prophylaxis against recurrent urinary tract infections

INTRODUCCIÓN: Se analiza la influencia del tabaco en el espectro microbiológico, patrón de resistencia-sensibilidad y evolución en pacientes con infección de orina de repetición (ITUR). Evaluación del efecto de vacuna bacteriana polivalente en la prevención de las ITUR y el estado como fumador. MATERIAL Y MÉTODOS: Estudio retrospectivo multicéntrico de 855 mujeres con ITUR tratadas con pauta antibiótica supresiva o vacuna bacteriana entre 2009 y 2013. Grupo A (GA): Antibiótico (n = 495); Subgrupos: GA1 no fumadora (n = 417), GA2 fumadora (n = 78). Grupo B (GB): Vacuna (n = 360); Subgrupos: GB1 no fumadora (n = 263), GB2 fumadora (n = 97). VARIABLES: edad, ITU pre-tratamiento, tiempo libre de enfermedad (TLE), especie microbiana, sensibilidad y resistencia. Seguimiento a 3, 6 y 12 meses con cultivo y cuestionario SF-36. RESULTADOS: Edad media 56,51 años (18-75), similar entre grupos (p = 0,2257). Sin diferencia en número de ITU pre-tratamiento (p = 0,1329) ni en distribución del espectro bacteriano (p = 0,7471). El TLE fue superior en los subgrupos B respecto a los correspondientes A. Urocultivos en GA1: E. coli 62,71% con el 8,10% resistencia (33% quinolonas; 33% cotrimoxazol; 33% quinolonas + cotrimoxazol); en GA2 E. coli 61,53% con 75% resistencia (16,66% quinolonas; 33,33% quinolonas + cotrimoxazol; 16,66% amoxicilina/ácido clavulánico; 16,66% eritromicina + fosfomicina + clindamicina) (p = 0,0133). En GA no hubo diferencias entre pacientes tratadas con cotrimoxazol y nitrofurantoina (p = 0,8724). Urocultivos en GB1: E. coli 47,36% con el 22,22% resistencias (5,55% ciprofloxacino; 5,55% cotrimoxazol; 5,55% ciprofloxacino + cotrimoxazol; 5,55% amoxicilina/ácido clavulánico). En GB2 E. coli 70,02% con el 61,90% resistencias (30,76% quinolonas; 30,76% cotrimoxazol; 30,76% quinolonas + cotrimoxazol; 17,69% amoxicilina/ácido clavulánico) (p = 0,0144). CONCLUSIONES: En mujeres con hábito tabáquico e ITUR es más frecuente la aparición de bacterias resistentes, lo cual podría influir en una peor respuesta a los tratamientos preventivos, ya sea antibióticos o vacuna

INTRODUCTION: The influence of tobacco on the microbiological spectrum, resistance-sensitivity pattern and evolution in patients with recurrent urinary tract infections (RUTI) is analyzed. Evaluation of the effect of polyvalent bacterial vaccine on the prevention of RUTI and smoking status. MATERIAL AND METHODS: Retrospective multicenter study of 855 women with RUTI receiving suppressive antibiotic treatment or bacterial vaccine between 2009 and 2013. Group A (GA): Antibiotic (n = 495); Subgroups: GA1 non-smoker (n = 417), GA2 smoker (n = 78). Group B (GB): Vaccine (n = 360); Subgroups: GB1 non-smoker (n = 263), GB2 smoker (n = 97). VARIABLES: Age, pre-treatment UTI, disease-free time (DFT), microbial species, sensitivity and resistance. Follow-up at 3, 6 and 12 months with culture and SF-36 questionnaire. RESULTS: Mean age 56.51 years (18-75), similar between groups (P = .2257). No difference in the number of pretreatment UTIs (P = .1329) or in the distribution of the bacterial spectrum (P = .7471). DFT was higher in subgroups B compared with A. Urine cultures in GA1: E. coli 62.71% with 8.10% resistance (33% quinolones; 33% cotrimoxazole; 33% quinolones + cotrimoxazole); in GA2 E. coli 61.53% with 75% resistance (16.66% quinolones; 33.33% quinolones + cotrimoxazole; 16.66% amoxicillin-clavulanate; 16.66% erythromycin + phosphomycin + clindamycin) (P = .0133). There were no differences between patients of GA treated with cotrimoxazole and nitrofurantoin (P = .8724). Urine cultures in GB1: E. coli 47.36% with 22.22% resistance (5.55% ciprofloxacin; 5.55% cotrimoxazole; 5.55% ciprofloxacin + cotrimoxazole; 5.55% amoxicillin/clavulanic acid). In GB2 E. coli 70.02% with 61.90% resistances (30.76% quinolones; 30.76% cotrimoxazole; 30.76% quinolones + cotrimoxazole; 17.69% amoxicillin-clavulanic acid) (P = .0144). CONCLUSIONS: The development of bacterial resistance is more frequent among women with smoking habits and recurrent urinary infections. This could influence a worse response to preventive treatments, either with antibiotics or vaccines

The influence of smoking on bacterial resistance after vaccine or antibiotic prophylaxis against recurrent urinary tract infections. / Influencia del tabaquismo en la resistencia bacteriana después de la profilaxis frente a infecciones urinarias recurrentes con antibiótico o con vacuna.

INTRODUCTION: The influence of tobacco on the microbiological spectrum, resistance-sensitivity pattern and evolution in patients with recurrent urinary tract infections (RUTI) is analyzed. Evaluation of the effect of polyvalent bacterial vaccine on the prevention of RUTI and smoking status. MATERIAL AND METHODS: Retrospective multicenter study of 855 women with RUTI receiving suppressive antibiotic treatment or bacterial vaccine between 2009 and 2013. Group A (GA): Antibiotic (n=495); Subgroups: GA1 non-smoker (n=417), GA2 smoker (n=78). Group B (GB): Vaccine (n=360); Subgroups: GB1 non-smoker (n=263), GB2 smoker (n=97). VARIABLES: Age, pre-treatment UTI, disease-free time (DFT), microbial species, sensitivity and resistance. Follow-up at 3, 6 and 12 months with culture and SF-36 questionnaire. RESULTS: Mean age 56.51 years (18-75), similar between groups (P=.2257). No difference in the number of pretreatment UTIs (P=.1329) or in the distribution of the bacterial spectrum (P=.7471). DFT was higher in subgroups B compared with A. Urine cultures in GA1: E. coli 62.71% with 8.10% resistance (33% quinolones; 33% cotrimoxazole; 33% quinolones + cotrimoxazole); in GA2 E. coli 61.53% with 75% resistance (16.66% quinolones; 33.33% quinolones + cotrimoxazole; 16.66% amoxicillin-clavulanate; 16.66% erythromycin + phosphomycin + clindamycin) (P=.0133). There were no differences between patients of GA treated with cotrimoxazole and nitrofurantoin (P=.8724). Urine cultures in GB1: E. coli 47.36% with 22.22% resistance (5.55% ciprofloxacin; 5.55% cotrimoxazole; 5.55% ciprofloxacin + cotrimoxazole; 5.55% amoxicillin/clavulanic acid). In GB2 E. coli 70.02% with 61.90% resistances (30.76% quinolones; 30.76% cotrimoxazole; 30.76% quinolones + cotrimoxazole; 17.69% amoxicillin-clavulanic acid) (P=.0144). CONCLUSIONS: The development of bacterial resistance is more frequent among women with smoking habits and recurrent urinary infections. This could influence a worse response to preventive treatments, either with antibiotics or vaccines.

Asistencia al niño y adolescente con diabetes. Unidades de referencia en diabetes pediátrica / Treatment of the child and adolescent with type i diabetes: special paediatric diabetes units

El tratamiento intensivo de la diabetes mellitus tipo 1 (DM1) permite retrasar y enlentecer la progresión de las complicaciones crónicas (DCCT 1993). Este tipo de tratamiento en niños y adolescentes con DM1 tiene una complejidad diferente de la de otras etapas de la vida y por ello se necesitan Unidades de Asistencia Especializada en diabetes pediátrica. Se valoran los diferentes documentos y declaraciones sobre los derechos de los pacientes con DM1 y se enfatiza la necesidad de una adecuada asistencia sanitaria. En la última década, se han desarrollado en Europa varios proyectos para establecer una evaluación comparativa del tratamiento de la DM en edad pediátrica con el objetivo de establecer centros hospitalarios con una asistencia muy cualificada en su control. El Grupo de trabajo de Diabetes de la Sociedad Española de Endocrinología Pediátrica ha elaborado este documento con el objetivo de obtener un Consenso Nacional para la asistencia al niño y adolescente con DM1 en «Unidades de Referencia en diabetes pediátrica» y, a su vez, poder asesorar a las administraciones para establecer una Red Nacional dirigida a la asistencia del niño y adolescente con DM y organizar las Unidades de Atención Integral de la diabetes pediátrica en hospitales con nivel de referencia por su calidad asistencial (AU)

Intensive treatment of type 1 diabetes mellitus (DM1) delays and slows down the progression of chronic diabetes complications (DCCT 1993). This type of treatment in children and adolescents with DM1 has a different complexity to other stages of life and therefore, needs specialized care units. Various documents and declarations of diabetic patient's rights are evaluated, and the need for an adequate health care is emphasized. In the last decade, several projects have been developed in Europe to create a benchmark treatment of pediatric diabetes, with the aim of establishing hospitals with highly qualified healthcare to control it. The Diabetes Working Group of the Spanish Society for Pediatric Endocrinology (SEEP) has prepared this document in order to obtain a national consensus for the care of children and adolescents with type 1 diabetes in specialist Pediatric Diabetes Units, and at the same time advise Health Care Administrators to establish a national healthcare network for children and adolescents with diabetes mellitus, and organize comprehensive pediatric diabetes care units in hospitals with a reference level in quality of care (AU)

Servicio de Endocrinología Infantil del Hospital Universitario La Paz / Pediatric Endocrinology Department in the Hospital Universitario la Paz

Actualmente, el Servicio de Endocrinología Infantil del Hospital La paz es uno de los más prestigiosos del país, recibiendo pacientes no solo de otras áreas de salud de Madrid, sino también de otras comunidades autónomas. El gran avance en los últimos años de las distintas especialidades pediátricas en nuestro hospital, ha permitido que seamos referencia nacional para una gran cantidad de patologías endocrinológicas (AU)

Currently our department is one of the most prestigious in the country, not only receiving patients from other health areas in Madrid, but also from other regions. The breakthrough in the last years of different pediatric specialities, has allowed us to be national reference for a large number of endocrine pathology (AU)

[Treatment of the child and adolescent with type 1 diabetes: special paediatric diabetes units]. / Asistencia al niño y adolescente con diabetes. Unidades de referencia en diabetes pediátrica.

Intensive treatment of type 1 diabetes mellitus (DM1) delays and slows down the progression of chronic diabetes complications (DCCT 1993). This type of treatment in children and adolescents with DM1 has a different complexity to other stages of life and therefore, needs specialized care units. Various documents and declarations of diabetic patient's rights are evaluated, and the need for an adequate health care is emphasized. In the last decade, several projects have been developed in Europe to create a benchmark treatment of pediatric diabetes, with the aim of establishing hospitals with highly qualified healthcare to control it. The Diabetes Working Group of the Spanish Society for Pediatric Endocrinology (SEEP) has prepared this document in order to obtain a national consensus for the care of children and adolescents with type 1 diabetes in specialist Pediatric Diabetes Units, and at the same time advise Health Care Administrators to establish a national healthcare network for children and adolescents with diabetes mellitus, and organize comprehensive pediatric diabetes care units in hospitals with a reference level in quality of care.

Documento consenso del Grupo de Diabetes de la SEEP: Programa de formación para la implantación del tratamiento con infusión subcutánea continua de insulina (ISCI) en pacientes pediátricos con diabetes tipo 1 / Consensus document of the Diabetes Group of the Spanish Society of Pediatric Endocrinology (SEEP): A training program to carry out treatment with continuous subcutaneous insulin infusion (CSII) in pediatric patients with type 1 diabetes

Los avances tecnológicos en los últimos años en el campo de la diabetes han permitido la aplicación de nuevas terapias para nuestros pacientes con el objetivo fundamental de mejorar su control metabólico, la calidad de vida y evitar las hipoglucemias. Esto obliga a establecer protocolos de consenso en el empleo de estas nuevas tecnologías para ser utilizadas por los distintos profesionales implicados en esta enfermedad. Este programa de formación incluye los conocimientos básicos y avanzados, para la utilización de la ISCI (AU)

Recently new technologies for the management of diabetes allow new therapeutic strategies for diabetes patients with the object of improve metabolic control, queality of life and avoid hypoglycaemias. Because physicians must be familiar with new diabetic are devices, new protocols must be establish. This article reports on the Spanish Position Statement for the Diabetes Pediatric Group for the Spanish Pediatric Endocrinology Society (SEEP) on educational program for the treatment of children and adolescent with type 1 diabetes with continuous subcutaneous insulin infusion (AU)

Ketoacidosis at onset of type 1 diabetes mellitus in pediatric age in Spain and review of the literature.

UNLABELLED: DKA at diagnosis of T1DM is a life-threatening situation that represents the main cause of morbidity and mortality in pediatric patients with T1DM. OBJECTIVE: To determine whether the occurrence and severity of DKA at diagnosis of T1DM has suffered any changes in recent years in the Spanish paediatric population. PATIENTS AND METHODS: Data from 1169 patients with T1DM under 15 years of age was retrospectively studied (2004 -2008) for the presence and severity of DKA at the onset of T1DM, and compared to previous available studies in Spain. This study is multicentric, nationwide with eleven major Paediatric Diabetes Units involved. RESULTS: Complete data were available from 1151 patients (98%). Frequency of DKA was 39.5%, which is not significantly different from previous Spanish studies. 33.8%, children of 0-4.9 years of age, 40.8% aged 5-10.9 and 25.2% aged 11-14.9 years. Mean age of patients with DKA was significantly lower than the one of patients without DKA (7.44 +/- 4.10 versus 8.47 +/- 3.63 years). Mild DKA was occurring more frequently than moderate and severe forms (47.8%, versus 34.4% versus 17.8%, p<0.0001). Incidence of severe DKA was significantly higher in children under 4.9 years of age, especially in those younger than 2 years (p<0.001). Severe DKA led to complications in three children (cerebral oedema [n=1]), cerebral infarction (n=1) and femoral vein thrombosis (n=1). CONCLUSION: Frequency of DKA at diagnosis of T1DM in Spain is still high although most cases were mild. Children under 2 years of age seem to be at increased risk for severe DKA.

Estado actual y recomendaciones sobre la utilización de los sistemas de monitorización continua de glucosa en niños y adolescentes con diabetes mellitus tipo 1 / Current status and recommendations on the use of continuous blood glucose monitoring systems in children and adolescents with type 1 diabetes mellitus

Los métodos de medición de la glucemia han presentado un gran avance en la última década con la aparición de los sistemas de monitorización continua de la glucosa (SMCG) que miden los niveles de glucosa en el líquido intersticial y ofrecen información sobre patrones y tendencias de los niveles de la glucemia pero no sustituyen el autocontrol de la glucemia capilar. La mejoría del control de la diabetes utilizando los SMCG depende de la motivación y formación recibida por el paciente y familia, así como de la continuidad en su uso. Debido al gran desarrollo y la amplia utilización en la práctica clínica de estos sistemas, el grupo de diabetes de la Sociedad Española de Endocrinología Pediátrica ha elaborado un documento de consenso para su indicación y uso en la edad pediátrica. Existe un número limitado de ensayos clínicos en población pediátrica sobre el uso de esta tecnología. Se necesitan más datos para poder valorar su impacto sobre el control metabólico (AU)

Glucose monitoring methods have made great advances in the last decade with the appearance of the continuous glucose monitoring systems (CGMS) that measure the glucose levels in the interstitial liquid, providing information about glucose patterns and trends, but do not replace the self-monitoring of capillary glucose. Improvement in diabetes control using the CGMS depends on the motivation and training received by the patient and family and on the continuity in its use. Due to the development and widespread use of these systems in clinical practice, the diabetes group of the Sociedad Española de Endocrinología Pediátrica has drafted a document of consensus for their indication and use in children and adolescents. Only a limited number of trials have been performed in children and adolescent populations. More data are needed on the use of this technology in order to define the impact on metabolic control (AU)

Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple / An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies

Las anomalías endocrinológicas son frecuentes en los pacientes con deleción22q11.2 e incluyen, por orden de frecuencia, hipocalcemia por hipoparatiroidismo primario, talla baja y disfunción tiroidea. Presentamos un caso de deleción 22q11.2 de diagnóstico tardío con afectación endocrina múltiple y diabetes mellitus tipo 1, y se revisan los conocimientos actuales de las manifestaciones endocrinológicas descritas en los pacientes con esta anomalía genética (AU)

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion (AU)

[Current status and recommendations on the use of continuous blood glucose monitoring systems in children and adolescents with type 1 diabetes mellitus]. / Estado actual y recomendaciones sobre la utilización de los sistemas de monitorización continua de glucosa en niños y adolescentes con diabetes mellitus tipo 1.

Glucose monitoring methods have made great advances in the last decade with the appearance of the continuous glucose monitoring systems (CGMS) that measure the glucose levels in the interstitial liquid, providing information about glucose patterns and trends, but do not replace the self-monitoring of capillary glucose. Improvement in diabetes control using the CGMS depends on the motivation and training received by the patient and family and on the continuity in its use. Due to the development and widespread use of these systems in clinical practice, the diabetes group of the Sociedad Española de Endocrinología Pediátrica has drafted a document of consensus for their indication and use in children and adolescents. Only a limited number of trials have been performed in children and adolescent populations. More data are needed on the use of this technology in order to define the impact on metabolic control.

[An adolescent with 22q11.2 deletion syndrome and multiple endocrinopathies]. / Adolescente con síndrome de deleción 22q11.2 y endocrinopatía múltiple.

The endocrine abnormalities are common in patients with 22q11.2 deletion, and include hypocalcaemia due to primary hypoparathyroidism, short stature and thyroid dysfunction. We present a patient with delayed diagnosis of del22q11.2 who had multiple endocrine involvement and type 1 diabetes mellitus. A review is also made on the current knowledge of the endocrine manifestations described in patients with 22q11.2 deletion.

Documento de consenso sobre tratamiento con infusión subcutánea continua de insulina de la diabetes tipo 1 en la edad pediátrica / Consensus document on continuous subcutaneous insulin infusion (CSII) treatment in paediatrics with type I diabetes

Este artículo expone el documento consenso al que ha llegado el Grupo de Trabajo de Diabetes Pediátrica de la Sociedad Española de Endocrinología Pediátrica de la Asociación Española de Pediatría sobre el tratamiento con infusión subcutánea continua de insulina en diabetes tipo 1 en la edad pediátrica. Se recogen los aspectos prácticos sobre requisitos, indicaciones, contraindicaciones, candidatos, ventajas e inconvenientes de dicho tipo de tratamiento. Las conclusiones se basan en la revisión de los consensos internacionales basados en la evidencia y en el acuerdo de los participantes (AU)

This article reports on the Spanish Position Statement for the Diabetes Pediátric Group for the Spanish Pediatric Endocrinology Society (SEEP) on continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes. The practical issues about their indications, appropriate candidates, feasibility, and limits are outlined. The conclusions are based on the comprehensive review and balanced assessment of the evidence base on the international consensus and consensual answers to these questions for the participants (AU)

[Consensus document on continuous subcutaneous insulin infusion (CSII) treatment in paediatrics with type I diabetes]. / Documento de consenso sobre tratamiento con infusión subcutánea continua de insulina de la diabetes tipo 1 en la edad pediátrica.

This article reports on the Spanish Position Statement for the Diabetes Pediátric Group for the Spanish Pediatric Endocrinology Society (SEEP) on continuous subcutaneous insulin infusion in children and adolescents with type 1 diabetes. The practical issues about their indications, appropriate candidates, feasibility, and limits are outlined. The conclusions are based on the comprehensive review and balanced assessment of the evidence base on the international consensus and consensual answers to these questions for the participants.

Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos? / Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: a contiguous gene syndrome

Antecedentes: Son muchos los genes que se han implicado en la diferenciación testicular, cuyas alteraciones dan cuadros de trastornos de la diferenciación sexual y cariotipo 46XY. Caso clínico: Recién nacido con hipospadias interescrotal, gónadas palpables y pene hipoplásico. Cariotipo 46XY. Ecografía abdominal: testes y sin restos müllerianos. Buena respuesta al test corto de gonadotropinas. Al año presenta retraso psicomotor, hipotonía. Resonancia magnética con atrofia de sustancia blanca frontotemporal y disminución del cuerpo calloso. Biopsia testicular compatible con disgenesia gonadal. Dada la situación intersexual al nacimiento, el retraso psicomotor y la presencia de dismorfias faciales se solicita cariotipo de alta resolución: deleción 46, XY, del(9p)(p23-pter).ish tel (9p-). Comentarios: Son muchos los genes implicados en la diferenciación testicular, algunos de ellos también influyen sobre el desarrollo de otros tejidos. En el brazo corto del cromosoma 9 se encuentran dos genes, DMRT1 y DMRT2, implicados en la diferenciación sexual, cuyas alteraciones también han sido descritas como causantes de retraso mental. En la evaluación de los trastornos de la diferenciación sexual son muy importantes los signos acompañantes para poder orientar el estudio genético (AU)

Background: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. Case: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). Discussion: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study (AU)

[Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?]. / Deleción 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Síndrome de genes contiguos?

BACKGROUND: Many genes are involved in testicular differentiation. The alterations of these genes are responsible for sexual differentiation disorders with 46 XY karyotype. CASE: We report the case of a newborn who had an interscrotal hypospadias, palpable gonads and hypoplastic penis. Karyotype 46 XY. Abdominal ultrasound revealed testes and absence of Müllerian remnants. There was a good response to the short gonadotrophin test. At one year he had signs of psychomotor retardation and hypotonia. The magnetic resonance revealed frontal-temporal atrophy and a decrease in the corpus callosum. Testicular biopsy was compatible with gonadal dysgenesis. A preoperative cystography showed a vaginal remnant. Due to the presence of a sexual differentiation disorder, psychomotor retardation and facial dysmorphism, we requested a high-resolution karyotype: deletion 46, XY, del (9p) (p23-pter). Ish tel (9p-). DISCUSSION: Many genes are involved in testicular differentiation, some of which also affect the development of other tissues. In the short arm of chromosome 9, two genes, DMRT1 and DMRT2, are involved in sexual differentiation. Their alterations have also been described as causing mental retardation. In the evaluation of 46,XY disorders of sex differentiation, the accompanying signs are very important for guiding the genetic study.