Results 41 to 50 of about 53,350 (292)
Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]
, 2002 Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P +8 more
core
Hypogonadism in thalassemia major patients [PDF]
, 2016 Despite recent advances in iron chelation therapy, excess iron deposition in pituitary gonadotropic cells remains one of the major problems in thalassemic patients.
Boonsong Ongphiphadhanakul +5 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad +6 more
wiley +1 more source
Сахарный диабет, 2017 Hypogonadism in male patients is defined as a decrease in the serum testosterone level; it is associated with specific symptoms and/or signs (see the detailed description below). It is a common complication in diabetes mellitus.
Galina Afanas'evna Melnichenko +6 more
doaj +1 more source
Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay [PDF]
, 1999 Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the ...
Meeks, JJ +12 more
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Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Late-onset hypogonadism (LOH) : an emerging pathophysiological entity requiring the physician's attention [PDF]
, 2006 Late-onset hypogonadism (LOH) is an emerging pathophysiological entity. Not everybody is familiar with LOH or even recognizes its existence. Since the 19th century women's life expectancy has become progressively greater than that of men and therefore ...
Nieschlag, Eberhard
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Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source
Animal models of diabetes-related male hypogonadism [PDF]
, 2019 Hypogonadism is the clinical syndrome associated with low testosterone secretion in men. Hypogonadism affects ~37–57% men with diabetes mellitus (1). Male reproduction is orchestrated by the hypothalamo-pituitary-gonadal (HPG) axis, which regulates the ...
Dimakopoulou, Anastasia +6 more
core +1 more source
European Eating Disorders Review, EarlyView.ABSTRACT Objective The albumin‐globulin ratio (AGR) is a biochemical marker reflecting nutritional and inflammatory status, with significant prognostic value in chronic conditions. This study examined its association with clinical/biochemical markers in adolescents with anorexia nervosa (AN) and atypical AN (AAN).
Eylem Şerife Kalkan +5 more
wiley +1 more source