A classification of genes involved in normal and delayed male puberty / 亚洲男科学杂志(英文版)

Puberty is a pivotal biological process that completes sexual maturation to achieve full reproductive capability. It is a major transformational period of life, whose timing is strongly affected by genetic makeup of the individual, along with various internal and external factors. Although the exact mechanism for initiation of the cascade of molecular events that culminate in puberty is not yet known, the process of pubertal onset involves interaction of numerous complex signaling pathways of hypothalamo-pituitary-testicular (HPT) axis. We developed a classification of the mechanisms involved in male puberty that allowed placing many genes into physiological context. These include (i) hypothalamic development during embryogenesis, (ii) synaptogenesis where gonadotropin releasing hormone (GnRH) neurons form neuronal connections with suprahypothalamic neurons, (iii) maintenance of neuron homeostasis, (iv) regulation of synthesis and secretion of GnRH, (v) appropriate receptors/proteins on neurons governing GnRH production and release, (vi) signaling molecules activated by the receptors, (vii) the synthesis and release of GnRH, (viii) the production and release of gonadotropins, (ix) testicular development, (x) synthesis and release of steroid hormones from testes, and (xi)the action of steroid hormones in downstream effector tissues. Defects in components of this system during embryonic development, childhood/adolescence, or adulthood may disrupt/nullify puberty, leading to long-term male infertility and/or hypogonadism. This review provides a list of 598 genes involved in the development of HPT axis and classified according to this schema. Furthermore, this review identifies a subset of 75 genes for which genetic mutations are reported to delay or disrupt male puberty.

Effects of modified ultrafiltration on blood products requirement in children undergoing open heart surgery

To find out the effects of modified ultrafiltration on blood products requirement for transfusion in congenital heart disease children after open heart surgery.This was a quasi-experimental study between two clinical groups. Patients were assigned to both groups by using convenient sampling; to do Modified Ultrafiltration or not was surgeon's preference who was unaware whether the patient is participating in any study or not. The study was carried out at Armed Forces Institute of Cardiology/National Institute of Heart Diseases [AFIC/NIHD] Rawalpindi between August, 2005 and September, 2006. Total 200 patients were included in this study and were divided equally into two groups; study group [MUF] and control group [non MUF] keeping hundred patients in each group. Significantly increased level of hemoglobin after MUF [9.7 +/- 1.4 gm/dl before MUF versus 13.6 +/- 1.6 gm/dl after MUF, p<0.001] and significantly decreased volume of blood products required for transfusion in study group [24.1 +/- 24.5 ml/kg versus control: 43.81 +/- 42.4 ml/kg, p<0.001]. Significantly increased hemoglobin level was observed during first three days of ICU stay [12.6 +/- 1.8 g/dl versus control: 11.6 +/- 2.1 g/dl, p=0.001on first postoperative day, 11.3 +/- 1.8 g/dl versus control: 10.8 +/- 1.9 g/dl, p=0.039 on second postoperative day and 11.3 +/- 1.5 g/dl versus control: 10.5 +/- 1.8 g/dl, p=0.022 on third postoperative day]. From this study we concluded that use of MUF is well tolerated in all the patients and due to removal of extra water from patients circulation after separation from CPB resulted in hemodynamic benefits, significantly less use of blood products and better postoperative hemoglobin and hematocrit management

Serum FSH levels in pre-pubertal and peri-pubertal Pakistani males a preliminary study

Pre and peri-pubertal boys were subjected to evaluation of serum FSH levels, which were 2.830+/-.832 and 2.381+0.199 for the respective groups. During the course of the investigations, it was also found that several boys had elevated levels, which indicated the onset of testicular disorders. These represent the preliminary data for the Pakistani population. Further studies, with a broader population size need to be carried out to establish normal levels for the Pakistani population

Evaluation of serum testosterone level among Pakistani women with a history of infertility

Objective: This study was designed to estimate the incidence of testosterone elevation among infertile women

Method: Three hundred twenty seven married women, presenting with a complaint of infertility, were evaluated at the Reproductive Physiology Laboratory of the NIH, Islamabad. Serum testosterone level was determined using Enzyme Immuno Assay [EIA]

Statistical Analysis: Data were compared using student `t`-test

Results: The results revealed that 36.08% of the infertile women had significantly elevated level of serum testosterone, a predominately male hormone

Conclusion: The estimation of serum testosterone is not usually advised for assessment of the fertility status, unless the patient presents with symptoms of hyper androgenic status. However, the prevalence of a significantly high level of serum testosterone in more than one third of the studied subjects warrants the inclusion of serum testosterone level estimation as a routine component of female factor fertility assessment

Seroprevalence of antibodies to toxoplasma gondii, with particular reference to obstetric history of patients in Rawalpindi-Islamabad, Pakistan

Six hundred and forty blood samples were obtained from Rawalpindi-Islamabad to determine the frequency of Toxoplasma gondii antibodies using indirect immunofluorescent antibody [IFA] test. Two hundred and forty samples were from suspected cases of Toxoplasmosis. Forty [17%] cases were positive for IgG antibody. Seven [3%] of these cases showed antibody titre greater than 1:320. Of 65 children tested, 8 [12.30%] were positive. Four [6%] children had a rising titre from 1:160 to 1:1025. Prevalence of Toxoplasma antibodies was correlated to mode of living, maternal obstetric history, their animal contact and age of the children