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A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome
(ELSEVIER SCIENCE INC, 2010)
Objective: To describe a new FOXL2 gene mutation in a woman with sporadic blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and hypergonadotropic hypogonadism. Design: Case report. Setting: University medical ...
Hypogonadotropic Hypogonadism Revisited
(Hospital Clinicas, Univ São Paulo, 2013-01-01)
Impaired testicular function, i.e., hypogonadism, can result from a primary testicular disorder (hypergonadotropic) or occur secondary to hypothalamic-pituitary dysfunction (hypogonadotropic).Hypogonadotropic hypogonadism ...
Hypergonadotropic hypogonadism and cerebellar ataxia: an unusual association
(Academia Brasileira de Neurologia - ABNEURO, 2010-02-01)
17-hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: Laboratory and molecular diagnosis - a case report
(Parthenon Publishing GroupLancasterInglaterra, 2007)
Male hypogonadism: an extended classification based on a developmental, endocrine physiology-based approach
(Wiley, 2013-01)
Normal testicular physiology results from the integrated function of the tubular and interstitial compartments. Serum markers of interstitial tissue function are testosterone and insulin-like factor 3 (INSL3), whereas ...
O espectro das falências ovarianas ligadas ao cromossomo X
(Sociedade Brasileira de Endocrinologia e Metabologia, 2001-08-01)
Clinically ovarian failure is presented by primary or secondary amenorrhea and high levels of pituitary gonadotropins mainly FSH. Monossomy or X-chromosome rearrangements are among a variable number of suggested etiopathogenic ...
Hypogonadism in Pediatric Health: Adult Medicine Concepts Fail
(Elsevier Science London, 2019-12-01)
The classical definition of hypogonadism, used in adult medicine, as gonadal failure resulting in deficient steroid and gamete production, and its classification into hypergonadotropic and hypogonadotropic refer to primary ...
Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia
(Elsevier Science, 2017-07)
Dear EditorPhosphomannomutase-2 deficiency-congenital disorder of glycosylation (PMM2-CDG), congenital disorder of glycosylation type-Ia or Jaeken syndrome (MIM #601785) is an autosomal recessive inherited condition of ...