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Sorahia Domenice Miriam Yumie Nishi Ana Elisa Correia Billerbeck Ana Claudia Latronico Maria Aparecida Medeiros Alan John Russell Keith Vass Filomena Marino Carvalho Elaine Maria Costa Frade Ivo Jorge Prado Arnhold B. Bilharinho Mendonca 《Human genetics》1998,102(2):213-215
Mutations in the sex-determining region of the Y chromosome (the SRY gene) have been reported in low frequency in patients
with 46,XY gonadal dysgenesis. We investigated 21 Brazilian 46,XY sex-reversed patients, who presented either complete or
partial gonadal dysgenesis or embryonic testicular regression syndrome. Using Southern blotting, polymerase chain reaction,
denaturing gradient gel electrophoresis and direct sequencing, we analyzed deletions and point mutations in the SRY gene.
We found a missense mutation at codon 18 upstream of the 5′ border of the HMG box of the SRY gene in one patient with partial
gonadal dysgenesis. This variant sequence was also found in DNA obtained from blood and sperm cells of his father and in blood
cells of his normal brother. The S18N mutation was not found in 50 normal males, ruling out the possibility of a common polymorphism.
We identified a novel familial missense mutation (S18N) in the 5’ non-HMG box of the SRY gene in 1 of 21 patients with 46,XY
sex reversal.
Received: 6 May 1997 / Accepted: 2 October 1997 相似文献
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Fragoso MC Kohek MB Martin RM Latronico AC Lucon AM Zerbini MC Longui CA Mendonca BB Domenice S 《Hormone research》2007,67(1):7-11
OBJECTIVE: Hormone-secreting adrenocortical tumors are frequently associated with endocrine syndromes. We describe a 30-year-old man who had abdominal pain, a nodule in the right breast and loss of libido. Abdominal magnetic resonance imaging revealed a very large tumor in the right adrenal gland. METHODS: Hormonal profile disclosed increased levels of estradiol and slightly low testosterone levels. The basal and stimulated LH levels were normal, whereas basal and stimulated FSH levels were totally suppressed. Cortisol and adrenal androgen levels were normal. The unusual finding of selective FSH suppression suggested secretion of inhibin B by the adrenocortical tumor. A very high level of serum inhibin B (405 pg/ml) was demonstrated by ELISA assay. Right adrenalectomy and nephrectomy were performed and the tumor was classified as a malignant tumor (Weiss score: 7.0) and unilateral mastectomy disclosed a lipoma. RESULTS: One week after surgery, a GnRH-stimulation test disclosed normal basal and stimulated FSH levels and low levels of inhibin B and estradiol. Immunohistochemical analysis with anti-B-inhibin antibody revealed intense staining in the adrenocortical tumor cells. One month after surgery, an abdominal magnetic resonance imaging revealed a local recurrence of the tumor and a second surgery was performed with partial resection of the tumor and the patient died 1 year after the first surgery. CONCLUSION: We herein report the first inhibin B and estradiol-secreting adrenocortical carcinoma. The unusual selective inhibition of FSH secretion should be considered a valuable hormonal finding for the diagnosis of inhibin B-secreting adrenocortical tumors. 相似文献
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Sorahia Domenice Aline Zamboni Machado Frederico Moraes Ferreira Bruno Ferraz‐de‐Souza Antonio Marcondes Lerario Lin Lin Mirian Yumie Nishi Nathalia Lisboa Gomes Thatiana Evelin da Silva Rosana Barbosa Silva Rafaela Vieira Correa Luciana Ribeiro Montenegro Amanda Narciso Elaine Maria Frade Costa John C Achermann Berenice Bilharinho Mendonca 《Birth defects research. Part C, Embryo today : reviews》2016,108(4):309-320
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