RESUMO
There are few pediatric data regarding manifestations and outcomes of Rathke's cleft cysts (RCC). We retrospectively reviewed 13 cases treated at Massachusetts General Hospital over 10 years. Age at presentation was 12-17 years, except for one 7-year-old who presented with sexual precocity. There was a female preponderance [11 females, 2 males, p = 0.01], and all were pubertal at diagnosis. Common features at presentation were headaches (11/13), endocrine abnormalities (5/13) and visual disturbances (2/13). Four patients underwent transsphenoidal surgery. Symptoms improved in all but one, in whom headaches persisted. Recurrent growth in one patient was treated successfully by excision. For conservatively treated patients, cyst size was unchanged over follow-up (6 months-5 years). Female preponderance and pubertal presentation suggest a possible link between sex hormones and RCC pathogenesis. Although estrogen and progesterone receptor immunostaining was negative in the cyst lining, estrogen receptor immunostaining was positive in adjacent pituitary cells. Further investigations regarding this issue are warranted.
Assuntos
Cistos do Sistema Nervoso Central/etiologia , Estrogênios/fisiologia , Adolescente , Cistos do Sistema Nervoso Central/complicações , Cistos do Sistema Nervoso Central/patologia , Cistos do Sistema Nervoso Central/cirurgia , Criança , Feminino , Humanos , Imuno-Histoquímica , Masculino , Puberdade , Receptores de Estrogênio/análise , Receptores de Progesterona/análiseRESUMO
Clinical manifestations and outcomes of pituitary adenomas in children are not clearly defined. We retrospectively reviewed cases of pituitary adenomas in children 0-18 years treated at MassGeneral Hospital for Children over 15 years. Thirty-five patients were identified. Age at presentation was 7-18 years. Seventeen had prolactinomas, 3 had somatotropinomas, and 15 had Cushing disease. Thirteen prolactinoma patients were female and most commonly presented with oligomenorrhea (10/13) and galactorrhea (7/13). Nine were successfully treated medically. Two somatotropinoma patients presented with visual disturbances; the third was an incidental finding. Two were cured by trans-sphenoidal surgery (TSS). Thirteen Cushing disease patients were initially cured by TSS; six recurred after 3-6 years. Patients with or without recurrence did not differ for age, tumor-size and hormone levels. The high recurrence rate of Cushing disease in our series (46%) compared with adults treated surgically at this institution (7%) emphasizes the need for long-term follow-up.
Assuntos
Adenoma/patologia , Neoplasias Hipofisárias/patologia , Adenoma/terapia , Adolescente , Criança , Terapia Combinada , Feminino , Adenoma Hipofisário Secretor de Hormônio do Crescimento/patologia , Humanos , Masculino , Hipersecreção Hipofisária de ACTH/patologia , Neoplasias Hipofisárias/terapia , Prolactinoma/patologia , Estudos RetrospectivosAssuntos
Bloqueadores do Receptor Tipo 1 de Angiotensina II/uso terapêutico , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Diabetes Mellitus Tipo 1/tratamento farmacológico , Nefropatias Diabéticas/prevenção & controle , Retinopatia Diabética/prevenção & controle , Sistema Renina-Angiotensina/efeitos dos fármacos , Progressão da Doença , HumanosAssuntos
Podócitos/metabolismo , Trombose/induzido quimicamente , Fator A de Crescimento do Endotélio Vascular/metabolismo , Capilares/efeitos dos fármacos , Capilares/metabolismo , Difusão , Humanos , Glomérulos Renais/irrigação sanguínea , Glomérulos Renais/metabolismo , Fatores de Risco , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidoresRESUMO
Baseline urinary type IV collagen excretion was negatively correlated with the subsequent GFR change (r(s)=-0.39, p=0.04) in our cohort of 30 type 2 diabetic patients with proteinuria. Therefore, it could be used to predict subsequent declining renal function in type 2 diabetic patients with proteinuria.
Assuntos
Colágeno Tipo IV/urina , Diabetes Mellitus Tipo 2/fisiopatologia , Diabetes Mellitus Tipo 2/urina , Nefropatias Diabéticas/patologia , Nefropatias Diabéticas/urina , Proteinúria/patologia , Proteinúria/urina , Adulto , Idoso , Idoso de 80 Anos ou mais , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Diabetes Mellitus Tipo 2/tratamento farmacológico , Feminino , Taxa de Filtração Glomerular , Humanos , Testes de Função Renal , Masculino , Pessoa de Meia-Idade , Proteinúria/tratamento farmacológicoRESUMO
UNLABELLED: CONTEX: Although GH values measured by an immunoassay usually reflect GH bioactivities, discrepancy exists between immunoactivity and bioactivity in a rare condition known as 'bioinactive GH'. OBJECTIVE: To report an immunologically anomalous but considerably bioactive GH. METHODS: We performed mutational and functional analyses of GH1 in a 7-year-old Japanese boy with short stature (-3.0 s.d.) in whom serum GH values measured with a Tosoh immunoassay kit were all undetectable in three provocation tests, whereas urine GH value measured with a Hitachi immunoassay kit was within the normal range. Serum IGF-1 was at a low-normal range, and IGF-binding protein-3 was below the normal range. RESULTS: Mutation analysis showed a missense GH produced by a novel GH1 mutation (p.D116E) of paternal origin and a frameshift mutation (p.Q68fsX106) of maternal origin. Genotype-phenotype correlations in this family and in vitro functional studies indicated that the p.D116E-GH was immeasurable with the Tosoh kit but was measurable, though maybe not precise, with a Daiichi kit, and had a reduced in vivo bioactivity. The p.Q68fsX106 yielded no GH protein. CONCLUSIONS: The results suggest that the p.D116E affects the GH epitope primarily recognized by the Tosoh kit but not by the Hitachi or the Daiichi kits, thereby producing an immunologically anomalous but considerably bioactive GH. The presence of such a hormone discordant for immunoactivity and bioactivity should be kept in mind, to allow for an appropriate assessment of endocrine data.
Assuntos
Hormônio do Crescimento Humano/análise , Hormônio do Crescimento Humano/fisiologia , Processos de Crescimento Celular , Linhagem Celular Tumoral , Criança , DNA/química , DNA/genética , Epitopos/análise , Feminino , Hormônio do Crescimento Humano/química , Hormônio do Crescimento Humano/genética , Humanos , Masculino , Modelos Moleculares , Mutação de Sentido Incorreto , Linhagem , Reação em Cadeia da Polimerase , Análise de Sequência de DNARESUMO
Mutations in vitamin D receptor (VDR) cause hereditary vitamin D resistant rickets (HVDRR). We reported a Thai girl with HVDRR, presenting with an early onset of rickets and partial alopecia. She was a product of a consanguineous couple. Mutation analysis showed that she was homozygous for a novel splice site mutation of the VDR gene, 462 + 1 G --> C, resulting in incorporation of the whole 254 bp of the intron 4 into its mRNA. The mutated protein is expected to contain no ligand-binding domain. The fact that she did not develop total alopecia despite of no VDR ligand-binding domain supports that VDR function on hair cycling is ligand independent.