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Objective Investigate the gonadal hormonal function in sickle cell individuals. Context Sickle cell disease (SCD) is associated with delayed physical and sexual development, and it has been related to both primary testicular failure and hypothalamo‐pituitary‐gonadal axis abnormalities. Design The study of the pituitary gonadotrophin reserve was done evaluating the hormonal levels before and after stimulation by gonadoliberin. Patients Male patients with homozygous SCD (18‐39 years, median = 29.5 years). Measurements Gonadal function was evaluated through clinical parameters and the hormonal quantification. Results Although low body weight and other clinical signs of undernutrition such as clinical hypoandrogenism and the extreme retardation of puberty were seen in these patients, final stature and hormonal testicular reserve to hCG stimulation were proved to be normal according to our previous data. In the present investigation, the basal luteotropic gonadotropin (LH), follicle‐stimulating hormone (FSH) and testosterone (T) levels were similar between the patients and controls. Prostate‐specific antigen (PSA) levels—used as a biochemical marker of androgenicity, mainly in puberty—were lower in the patients than in the controls and were only correlated with T. A subtle abnormality in the pituitary responsivity to gonadotropin‐releasing hormone (GnRH) was disclosed, with a higher response to LH 60 minutes after stimulation in patients than in controls. Conclusions These data, in addition to both the clinical and biochemical signs of hypoandrogenism associated with normal to elevated T levels strongly suggest a peripheral origin of hypogonadism, which is probably due to androgen resistance in the patients with SCD.

This study showed that the values of haematological parameters, especially haematocrit, Hb, MCV, MCH, MCHC and red blood cell distribution width (RDW), are lower in patients with IDA, especially when associated with α-thal and therefore it may be useful to discriminate between the different types of microcytic anaemia.

The history of muscle biopsy dates back to 1860, when Duchenne first performed a biopsy on a patient with symptoms of myopathy (1) . Since then, the basic and clinical science of muscle and muscle disease has gone through three stages of development: the classical period, the modern stage and the molecular era.

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