DAX1 gene (Xp21) expression is involved in the development of the hypothalamo-pituitary-gonadal and adrenal axes, and acts as a negative regulator of steroidogenesis. Mutations of this gene determine adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism. We report the case of a 9-month-old boy referred for the study of macrogenitosomia and pubic hair development. He had presented acute adrenal crises in the neonatal period and, later, a clinical picture of peripheral precocious puberty. A mutation in the DAX1 gene was found (Trp291Arg) and a diagnosis of AHC was made. Replacement doses of hydrocortisone (HC) (10 mg/m2/day) failed to produce a feedback inhibition of adrenocorticotropic hormone (ACTH), and testosterone levels remained high. Testosterone and ACTH values normalized after HC was progressively increased to 18 mg/m2/day. In conclusion, peripheral precocious puberty in patients with DAX1 gene mutations appears to be secondary to the stimulus exerted by ACTH on melanocortin receptors in Leydig cells and to the overexpression of testicular steroidogenesis activators by the loss of transcriptional repression.

Patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) can be classified as types 1 or 2, according to the presence or not of ovarian failure. We report a 5 year-old girl with BPES and large multicystic ovaries who developed peripheral precocious puberty with thelarche (Tanner stage III) and pubarche (Tanner stage II). Pelvic ultrasound revealed pubertal uterus and enlarged multicystic ovaries. Fibrous dysplasia and McCune-Albright syndrome were ruled out. Treatment with an estrogen antagonist was started (tamoxifen, 10 mg/day), achieving regression of thelarche. Tamoxifen treatment was stopped at 10-(7/12) years, and growth velocity and skeletal maturation rate returned to normal. No treatment-associated adverse effects were observed.

Conocer las características clínicas y epidemiológicas de la diabetes mellitus tipo 1 (DM1) en pacientes atendidos en consulta externa del Hospital de Especialidades Pediátricas Omar Torrijos Herrera de Panamá, desde 2007 a 2019. Materiales y métodos: Estudio observacional, descriptivo, transversal y retrospectivo, para el cual se recogió información de los expedientes clínicos de pacientes con diagnóstico de DM1. Resultados: Se incluyeron en el estudio 176 pacientes. El sexo femenino fue el predominante (54%). La edad promedio al diagnóstico fue de 8 años (± 4 años de desviación estándar) y el 38.6% debutó con cetoacidosis diabética. El 10.2% presentó albuminuria. La principal causa de reingreso hospitalario fue diabetes descompensada. La prevalencia de DM1 fue de 1.2 por cada 10,000 menores de 0-18 años y la incidencia en el periodo de estudio está en el rango de 0.5 a 1.6 por cada 100,000 menores de 0-18 años/año. Conclusiones: La DM1 es una enfermedad crónica prevalente en la población pediátrica y su incidencia va en ascenso. Un alto porcentaje de pacientes cursa con mal control metabólico, aunque con baja frecuencia de complicaciones microvasculares y macrovasculares.