Abstract Background Male sex reversal syndrome is a rare genetic cause of male infertility with an overall incidence 1/20,000–1/100,000 males. There mismatching between the make-up and apparent clinical features. The presentation such cases variable ranging from ambiguous genitalia at birth, failed puberty, up to normal phenotype hypogonadism. exact molecular bases this are still unclear. Most ...

OBJECTIVE We report a rare case of 49,XXXXY syndrome with autoimmune diabetes (requiring insulin therapy), bilateral cataracts and unilateral glaucoma. CLINICAL PRESENTATION AND INTERVENTION A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism...

Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal externa...

Puberty is frequently delayed in adolescent patients with chronic renal failure, due to temporarily insufficient hypothalamo-pituitary stimulation of the gonads. In these patients, basal levels of gonadotropins are normal or slightly elevated due to increased plasma half-life of luteinizing hormone (LH) and follicle stimulating hormone (FSH) [1]. However, the response to gonadotropin releasing ...

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, meta...