Pubertad precoz periférica: disgenesia gonadal completa 46 XY / Peripheral precocious puberty: 46, XY complete gonadal dysgenesis

La pubertad precoz, a pesar de las definiciones clínicas estandarizadas y pruebas de diagnóstico disponibles, requiere, en ciertas situaciones una investigación exhaustiva y estructurada con el fin de conocer la causa. Niña de 4 años de edad, fenotípicamente de sexo femenino, enviada a la consulta de endocrinología pediátrica por pubarquia y telarquia. Se observó aceleración en la tasa de crecimiento con niveles altos de estradiol y testosterona, con determinaciones prepúberes de la hormona luteinizante y foliculoestimulante. El resto del estudio de pubertad precoz periférica mostró la presencia de gonadoblastoma bilateral. El estudio genético reveló cariotipo 46 XY con mutación c.89G> T (p.Arg30Ile) en el exón 1 del gen SRY, confirmando el diagnóstico de disgenesia gonadal completa. Los trastornos de la diferenciación sexual deben ser considerados en el abordaje y la investigación de las causas de la pubertad precoz periférica, especialmente en presencia de tumores de ovario, como gonadoblastoma y disgerminomas

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma

[Peripheral precocious puberty: 46, XY complete gonadal dysgenesis]. / Pubertad precoz periférica: disgenesia gonadal completa 46 XY.

Despite standard clinical definitions and availability of diagnostic tests for precocious puberty, an intensive and structured investigation is needed in order to diagnose the aetiology in particular cases. A 4-year-old, phenotypically female child was referred to paediatric endocrinology consultation for premature pubarche and thelarche. There was an acceleration of growth velocity with high levels of estradiol and testosterone, and prepubertal FSH and LH measurements. Investigation showed bilateral gonadoblastoma as the cause of the peripheral precocious puberty. Genetic studies revealed 46 XY karyotype with mutation c.89G> T (p.Arg30Ile) in exon 1 of the SRY gene, confirming the diagnosis of complete gonadal dysgenesis. Disorders of sexual differentiation must be considered in the approach and investigation of peripheral precocious puberty, especially in the presence of ovarian tumours, such as gonadoblastoma and dysgerminoma.

Diabetes lipoatrófica. Un reto terapéutico / Lipoatrophic diabetes. a therapeutic challenge

La lipodistrofia congénita generalizada es un trastorno hereditario poco común, de herencia autosómica recesiva, caracterizado por la ausencia casi total de tejido adiposo desde el nacimiento. Se asocia a la aparición precoz de anomalías metabólicas como hipertrigliceridemia, esteatosis hepática y resistencia a la insulina, que pueden acarrear consecuencias fatales debido al desarrollo de aterosclerosis precoz, diabetes lipoatrófica y cirrosis hepática. Los autores presentan el caso de un paciente diagnosticado clínica y analíticamente en el primer año de vida y, posteriormente, confirmado por la identificación de una mutación en el gen BSCL2. Con este caso los autores pretenden compartir las dificultades en el manejo terapéutico de la dislipidemia y la diabetes en esta enfermedad(AU)

Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked deficiency of adipose tissue and usually recognised at birth. This disorder is associated with early development of metabolic complications such as hypertriglyceridemia, hepatic steatosis, and insulin resistance. These complications ultimately lead to fatal events as a consequence of early atherosclerosis, lipoatrophic diabetes and hepatic cirrhosis. The authors report the case of a patient diagnosed, based on clinical and laboratory findings, in the first year of life. The established diagnosis was then confirmed by identifying a mutation in the BSCL2 gene. Because the hypertriglyceridemia and diabetes were refractory to treatment, the authors present this case in order to reflect on the best therapeutic management of this pathology(AU)

[Lipoatrophic diabetes. A therapeutic challenge]. / Diabetes lipoatrófica. Un reto terapéutico.

Congenital generalised lipodystrophy is a rare autosomal recessive disorder characterised by a marked deficiency of adipose tissue and usually recognised at birth. This disorder is associated with early development of metabolic complications such as hypertriglyceridemia, hepatic steatosis, and insulin resistance. These complications ultimately lead to fatal events as a consequence of early atherosclerosis, lipoatrophic diabetes and hepatic cirrhosis. The authors report the case of a patient diagnosed, based on clinical and laboratory findings, in the first year of life. The established diagnosis was then confirmed by identifying a mutation in the BSCL2 gene. Because the hypertriglyceridemia and diabetes were refractory to treatment, the authors present this case in order to reflect on the best therapeutic management of this pathology.