Primary growth hormone insensitivity and psychomotor delay.

We report a case of short stature irresponsive to growth hormone (GH) replacement therapy. Low GH response to provocative tests and undetectable IGF-1 levels had suggested GH deficiency, while response to therapy indicated GH insensitivity. Molecular evaluation of the GH/IGF-1 axis should be performed in these cases to improve diagnosis and therapy.

Mexican case report of a never-treated Laron syndrome patient evolving to metabolic syndrome, type 2 diabetes, and stroke.

Glucose and lipid profile together with blood pressure should always be considered for low sera-IGF-1 patients. Even when adulthood is reached, IGF-1 therapy in these patients should be pursued as metabolic and protective cellular effects could be triggered. Real incidence of growth hormone insensitivity is still to be uncovered.

Fanconi Anemia and Laron Syndrome.

BACKGROUND: Fanconi anemia (FA) is a condition characterized by genetic instability and short stature, which is due to growth hormone (GH) deficiency in most cases. However, no apparent relationships have been identified between FA complementation group genes and GH. In this study, we thereby considered an association between FA and Laron syndrome (LS) (insulin-like growth factor 1 [IGF-1] deficiency). METHODS: A 21-year-old female Mexican patient with a genetic diagnosis of FA was referred to our research department for an evaluation of her short stature. Upon admission to our facility, her phenotype led to a suspicion of LS; accordingly, serum levels of IGF-1 and IGF binding protein 3 were analyzed and a GH stimulation test was performed. In addition, we used a next-generation sequencing approach for a molecular evaluation of FA disease-causing mutations and genes involved in the GH-IGF signaling pathway. RESULTS: Tests revealed low levels of IGF-1 and IGF binding protein 3 that remained within normal ranges, as well as a lack of response to GH stimulation. Sequencing confirmed a defect in the GH receptor signaling pathway. CONCLUSIONS: To the best of our knowledge, this study is the first to suggest an association between FA and LS. We propose that IGF-1 administration might improve some FA complications and functions based upon IGF-1 beneficial actions observed in animal, cell and indirect clinical models: erythropoiesis modulation, immune function improvement and metabolic regulation.

[Cyclosporidiosis: clinical and diagnostic characteristics of an epidemic outbreak]. / Ciclosporidiosis: características clínicas y diagnósticas de un brote epidémico.

BACKGROUND: Cyclospora cayetanensis, a coccidian parasite, has increasingly been recognized as a cause of gastrointestinal tract illness. We describe a group of patients with this infection. OBJECTIVES: Our aim was to describe the observed clinical course and spectrum of the disease. METHODS: We conducted a prospective study of 101 patients with diarrhea who attended the same wedding reception. RESULTS: Mean incubation period was 8 days; commonly reported symptoms included diarrhea (91%), with 10 or more loose stools in a 24-h period. The illness had a characteristic waxing and waning course and in nearly 72% of patients there occurred symptom recurrence. Other reported symptoms in our patient group included vomiting and fever; 72% of patients had received antibiotics, mainly quinolones, without good response. Watercress was probable vehicle of transmission. CONCLUSIONS: Cyclospora may cause severe diarrhea with a long incubation period and recurring symptoms, which should be considered in evaluation of prolonged gastrointestinal illness. To our knowledge, this is the first outbreak reported in Mexico.

Gastroenteritis por rotavirus (correlación clínica) / Gastroenteritis by rotavirus (clinical correlation)

Se estudiaron 55 niños con síndrome diarreico de no más de cinco días de evolución y sin enfermedad intercurrente en apariencia; nueve de ellos (16.3%) resultaron positivos a la investigación de rotavirus por el método ELISA. Con excepción de uno, todos los pacientes eran menores de un año de edad. En el cuadro clínico, después de las evacuaciones líquidas, predominó vómito en siete casos (77%) y fiebre en cuatro (44%); seis de ellos ingresaron al hospital por presentar diversos grados de deshidratación. La biometría hemática no fue útil como orientación en el diagnóstico de posible etiología viral. El recuento de leucocitos en heces siempre fue escaso o nulo, lo que sugirió etiología viral