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We report a very rare case of a girl with hypogonadism probably due to inactive FSH. She had been diagnosed as carbohydrate-deficient glycoprotein syndrome. The 14-year-old patient had no secondary sexual characteristics with the 46,XX karyotype and estradiol (E2) levels were undetectable. Follicle
Among 42 patients with GD, one had clinical diabetes and 10 had chemical diabetes (26%) when tested by OGTT. The insulinogenic index was lower in patients with chemical diabetes than in patients with normal OGTT. Among 19 patients with isolated hypogonadotropic hypogonadism, similarly tested, three
Six females and six males with carbohydrate-deficient glycoprotein (CDG) syndrome type I, aged 4 months to 43 years, were examined for gonadal function and electrophoretic isoform patterns of four glycoprotein hormones: FSH, LH, TSH and erythropoietin. The female patients had a hypergonadotrophic
The carbohydrate-deficient glycoprotein (CDG) syndrome type 1 is a genetic multisystem disorder, characterized by hypoglycosylation of glycoproteins and presenting with neurologic impairment. In 12 girls and 14 boys, we confirmed the diagnosis of CDG syndrome type 1 by immune-isoelectric focusing of
Effects of testosterone (T) on the cardiovascular system of men remain controversial. The impact of T-replacement therapy (TRT) in men with functional hypogonadism and type 2 diabetes mellitus (T2DM) has to be elucidated. This study included 80 men (mean age 51.5 ± 6.3 years) with newly diagnosed
Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem disorders characterized by defective glycosylation of glycoconjugates. It is mostly a severe disorder which presents neonatally. There is a severe encephalopathy with
Objective(s): To explore associations between dietary habits and erectile dysfunction (ED) in a cohort of patients presenting to a high-volume men's health clinic.
Materials and methods:
Small cell lung cancer (SCLC) accounts for 15% of lung cancers, and it commonly expresses peptide and protein factors that are active as hormones. These secreting factors manifest as paraneoplastic disorders, such as ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS). The 12 patients (9 male, 3 female) with the Prader-Labhart-Willi-Syndrome (PLWS) were examined, and had medical treatment. Small stature varied in degree; body-height was found below the 25th percentile of normal height in 9 of the patients, 6 of them ranged along or below the 3rd percentile.
Inborn errors of metabolism (IEM) are rare diseases, most often inherited as an autosomal recessive disorder. They may be associated with endocrine dysfunction, the most frequent of them being disorders of carbohydrate metabolism (hypoglycemia, diabetes). The endocrinologist might be led to screen
Anorexia nervosa (AN), a disorder characterized by the refusal to sustain a healthy weight, has the highest mortality of any psychiatric disorder. This review presents a model of AN that ties together advances in our understanding of how leptin, serotonin, and hypogonadism are brought about in AN
The ultrastructural characteristics of the testicular tissue in male infertility and the isoenzyme spectrum of some enzymes in sperm cells have been studied. The testicular material was taken by Vilar's method from three healthy males with normospermia and eleven males with hypogonadism, azoospermia
The pituitary gonadotropins, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) play a pivotal role in reproduction. The synthesis and secretion of gonadotropins are regulated by complex interactions among several endocrine, paracrine, and autocrine factors of diverse chemical
Changes in sensitivity to insulin occur in the course of a number of endocrine disorders. Most of the hormones through their antagonistic action to insulin lead to increased hepatic glucose output and its decreased utilisation in peripheral tissues. Carbohydrate disorders observed in endocrine