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1.
Pediatr Endocrinol Diabetes Metab ; 27(4): 298-304, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34928109

RESUMO

The coexistence of 2 genetic diseases can mutually modify their course. We describe the case of a 10-year-old boy with Sliver-Russell syndrome (SRS) and Duchenne muscular dystrophy (DMD). The patient's short stature, which is part of the clinical picture of both diseases, has been additionally aggravated by the steroid therapy, which is necessary to delay the progression of DMD. From the age of 9 years, the patient was treated with recombinant human growth hormone (rhGH) for 18 months. The following study discusses whether rhGH therapy in a child with SRS and DMD may alleviate or worsen the course of DMD, and how it affects carbohydrate metabolism disorders.


Assuntos
Distrofia Muscular de Duchenne , Síndrome de Silver-Russell , Estatura , Criança , Glucocorticoides , Humanos , Masculino , Força Muscular , Distrofia Muscular de Duchenne/complicações , Distrofia Muscular de Duchenne/tratamento farmacológico , Distrofia Muscular de Duchenne/genética , Síndrome de Silver-Russell/tratamento farmacológico , Síndrome de Silver-Russell/genética
2.
Pediatr Endocrinol Diabetes Metab ; 27(4): 272-282, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35114769

RESUMO

INTRODUCTION: The pituitary stalk interruption syndrome (PSIS) is one of the complex -forms of congenital pituitary insufficiency. Symptoms resulting from insufficiency of the pituitary gland, in spite of the inborn character of the disease, may appear at various stages of life. The aim of this paper was to present clinical presentation in 31 patients with PSIS confirmed radiologically. RESULTS: In the whole study population during first examination 25.8% children were diagnosed with combined pituitary hormone deficiency (CPHD). During the endocrinological observation (median follow-up 5.1 years, range 0.513.2) of the above-mentioned group 74.2% subjects were diagnosed with CPHD, while 25.8% patients with isolated growth hormone deficiency (GHD). Two children with initially short stature were confirmed with GHD. As a result of the parents' decision, growth hormone therapy was either not started or discontinued. During further follow-up, however, the children achieved normal height. CONCLUSIONS: Children with PSIS present a diverse clinical picture and should be observed because of the risk of further pituitary disorders. In the differential diagnosis of hypoglycemia in the neonatal period and in infancy, hypopituitarism should be considered. The phenomenon of normal growth in patients with confirmed growth hormone deficiency has been observed, although is not fully understood.


Assuntos
Hormônio do Crescimento Humano , Hipopituitarismo , Doenças da Hipófise , Adolescente , Criança , Pré-Escolar , Humanos , Hipopituitarismo/diagnóstico , Hipopituitarismo/tratamento farmacológico , Lactente , Imageamento por Ressonância Magnética , Doenças da Hipófise/diagnóstico , Doenças da Hipófise/tratamento farmacológico , Hipófise/diagnóstico por imagem
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