Revista Cubana de Endocrinología

What is Causing the Obesity Epidemic?

Cut-off point of the waist circumference as a predictor of dysglycemia

Level of information on the declining testicular function syndrome in male aging

Sexuality in people with acromegaly and Cushing's syndrome; experiences and related psychosocial aspects

Bone response to treatment with bisphosphonates, experience in the Climaterium and Osteoporosis Clinic

**Clinical and therapeutic factors and their relationship with the embryo quality in patients subjected to in vitro fertilization**

Berardinelli syndrome

El síndrome Berardinelli es una enfermedad poco frecuente, con amplia heterogeneidad clínica y genética, clínicamente caracterizada por pérdida de tejido adiposo a nivel subcutáneo y de otros tejidos. Esta lipodistrofia generalizada congénita provoca hipertrofia muscular, asociada a trastornos endocrinos, con crecimiento acelerado durante la infancia, pubertad precoz e hiperglicemia. Está considerada una enfermedad metabólica rara, que se hereda de forma autosómico recesiva. En la actualidad se describen 4 variantes de este síndrome, con varios genes implicados. El objetivo de este trabajo es describir las características clínicas en una niña, en la cual su aspecto fenotípico recuerda este síndrome, por la lipodistrofia marcada y aumento de la musculatura desde la etapa de lactante, por lo cual se consideró necesaria la valoración en equipo multidisciplinario para su adecuado seguimiento y asesoramiento genético a sus familiares.

Berardinelli syndrome is a rare disease, with broad clinical and genetic heterogeneity, and clinically characterized by loss of fatty tissue at subcutaneous level and of other tissues. This generalized congenital lipodystrophy causes muscle hypertrophy associated to endocrine disorders, accelerated growth at childhood, early puberty and hyperglycemia. It is considered as a rare metabolic disease and also recessive autosomal inheritance. Nowadays, four variants of the syndrome are described in which several gens are involved. The objective of this paper was to describe the clinical characteristics of a girl whose phenotypical aspect resembles this syndrome due to the marked lipodystrophy and increased musculature since her breastfeeding phase. Therefore, it was necessary to make an assessment by a multidisciplinary team for her adequate follow-up and the genetic counselling to her family.

Conicity index and its usefulness for detection of cardiovascular and metabolic risk

Center for the care of diabetic patients in Gramma province after nine years