Forma no clàsica de hiperplasia adrenal congénita en la niñez y adolescencia / Non-classic way of congenital adrenal hyperplasia in childhood and adolescence

INTRODUCCIÓN: la hiperplasia adrenal congénita es un trastorno hereditario de la esteroidogénesis suprarrenal, trasmitido por mutaciones genéticas con carácter autosómico recesivo, las cuales afectan las enzimas que intervienen en la biosíntesis del cortisol. La causa la constituye en 90 a 95 por ciento de los casos la deficiencia de la enzima 21 hidroxilasa. OBJETIVO: exponer la experiencia de los autores de este trabajo en la forma no clásica de esta enfermedad. MÉTODOS: se realizó la caracterización de 7 pacientes diagnosticados en la sala de endocrinología pediátrica del Instituto Nacional de Endocrinología, ubicada en el Hospital Pediátrico del Cerro, durante el período 1998-2008. Todos los pacientes pertenecían al sexo femenino. RESULTADOS: los síntomas se iniciaron a una edad promedio de 8,8 años y más de la mitad de los casos presentaron pubarquia precoz. La menarquia se produjo a una edad media de 10,7 años. Se logró el diagnóstico bioquímico al obtenerse valores elevados de 17 hidroxiprogesterona (en condiciones basales). Se emplearon distintas modalidades de tratamiento según la edad de cada paciente y los síntomas predominantes en cada caso. CONCLUSIONES: se corroboró la mayor frecuencia de diagnóstico de esta enfermedad en el sexo femenino, así como la importancia del estudio y el seguimiento ante un paciente con pubarquia precoz(AU)

INTRODUCTION: the congenital adrenal hyperplasia is an inherited disorder of suprarenal esteroidogenesis, transmitted by genetic mutations with a autosomal recessive character affecting the enzymes intervening in cortisol biosynthesis. In the 90 to 95 percent of cases, the cause is a deficiency of Hydroxylase enzyme 21. OBJECTIVE: to show the current paper authors' experience in the non-classic way of this entity. METHODS: we made a characterization of 7 female patients diagnosed in the Children Endocrinology Ward of the National Institute of Endocrinology located in the Children Hospital, Cerro municipality during 1998-2008. RESULTS: symptoms started at a mean age of 8,8 years and more the a half of cases had an early pubarche. Menarche appeared at a mean age of 19,7 years. We made a biochemical diagnosis achieving higher values of 17 hydroxyprogesterone (in basal conditions). Different treatment modalities were used according to each patient and predominant symptoms in each case. CONCLUSIONS: we verified the great frequency of this entity in female sex, as well as the study and follow-up significance in face of a patient presenting early pubarche(AU)

Variables Influencing 17-Hydroxyprogesterone Values in Newborn Screening for Congenital Adrenal Hyperplasia

PURPOSE: Congenital adrenal hyperplasia(CAH), which is classified into salt-wasting, simple virilization and non-classic type according to clinical features, is difficult to detect in early stages. Failure to diagnose it in the initial state may lead to life-threatening adrenal crisis, inappropriate male sex assignment in the genetic female, acceleration of skeletal maturation and subsequent short stature. Therefore, we studied the variables increasing the 17-hydroxyprogesterone(OHP) values for more specific and sensitive diagnosis of CAH. METHODS: We classified 3,532 newborns into variable factors; gestational age, birth weight, gender, delivery type, sampling date and stress. Then, we analysed the relationships between 17-OHP values and variable factors. RESULTS: The mean value of 17-OHP was 4.21+/-0.03ng/ml. There were significant differences among the variable factors except gender. The mean value of male was 4.26ng/ml, and that of female was 4.15ng/ml(P=0.10). The mean value of 17-OHP in vaginal delivered newborn was higher than C-section delivered ones(4.71ng/ml, 3.34ng/ml, P=0.0001). It was also higher in low birth weight(P=0.0001), in prematurity(P=0.001), those sampled within 4 days(P=0.0001), stressful condition and ventilator care-assisted(P=0.004). CONCLUSION: 17-OHP value in neonatal screening is influenced by several variables such as vaginal delivery, ventilator management, low birth weight, sampling date and prematurity. If the 17-OHP value is increased, we have to consider the variables influencing the increase in value and follow up with time interval or analysis of genetic mutations.

Variables Influencing 17-Hydroxyprogesterone Values in Newborn Screening for Congenital Adrenal Hyperplasia

PURPOSE: Congenital adrenal hyperplasia(CAH), which is classified into salt-wasting, simple virilization and non-classic type according to clinical features, is difficult to detect in early stages. Failure to diagnose it in the initial state may lead to life-threatening adrenal crisis, inappropriate male sex assignment in the genetic female, acceleration of skeletal maturation and subsequent short stature. Therefore, we studied the variables increasing the 17-hydroxyprogesterone(OHP) values for more specific and sensitive diagnosis of CAH. METHODS: We classified 3,532 newborns into variable factors; gestational age, birth weight, gender, delivery type, sampling date and stress. Then, we analysed the relationships between 17-OHP values and variable factors. RESULTS: The mean value of 17-OHP was 4.21+/-0.03ng/ml. There were significant differences among the variable factors except gender. The mean value of male was 4.26ng/ml, and that of female was 4.15ng/ml(P=0.10). The mean value of 17-OHP in vaginal delivered newborn was higher than C-section delivered ones(4.71ng/ml, 3.34ng/ml, P=0.0001). It was also higher in low birth weight(P=0.0001), in prematurity(P=0.001), those sampled within 4 days(P=0.0001), stressful condition and ventilator care-assisted(P=0.004). CONCLUSION: 17-OHP value in neonatal screening is influenced by several variables such as vaginal delivery, ventilator management, low birth weight, sampling date and prematurity. If the 17-OHP value is increased, we have to consider the variables influencing the increase in value and follow up with time interval or analysis of genetic mutations.