Hiperprolactinemia funcional idiopática en el varón. Efecto de la hiperprolactinemia en la función sexual a propósito de un caso con 29 años de seguimiento / Functional idiopathic hyperprolactinemia in males. Effect of hyperprolactinemia in sexual functioning: Case report with 29 years of follow-up

La hiperprolactinemia tumoral o no tumoral determina daño gonadal y sexual. Presentamos el caso de un varón con hiperprolactinemia idiopática confirmada por 29 a˜nos de seguimiento con permanente imagen hipofisaria normal, excluyendo otras enfermedades. La disfunción sexual se inició con deseo sexual hipoactivo, posteriormente disfunción eréctil central, manteniéndose la erección reflexogénica, que se perdió después de hiperprolactinemia prolongada. Bromocriptina normalizó la hiperprolactinemia, persistiendo el hipogonadismo; la administración de clomifeno corrigió la hipotestosteronemia y la disfunción sexual, situación mantenida al suspender dicho fármaco. Se recae al suspender bromocriptina por intolerancia. Cabergolina logra la normoprolactinemia, persistiendo la hipotestosteronemia sin respuesta a clomifeno, por lo que se indicó una terapia de reemplazo androgénico. Se suspendió cabergolina, lo que reanudó la hiperprolactinemia y la disfunción sexual, a pesar de la terapia con testosterona. Reinició cabergolina más testosterona, lográndose normoprolactinemia, normotestosteronemia y vida sexual normal. Este prolongado seguimiento de un paciente con hiperprolactinemia idiopática enfatiza el rol inhibitorio de prolactina en el deseo sexual hipoactivo y la disfunción eréctil, y el daño progresivo de la respuesta sexual y del eje hipotálamo-hipófisis testicular (AU)

Tumoral and non-tumoral male hyperprolactinemia cause gonadal and sexual damage. We present a man with idiopathic hyperprolactinemia and hypogonadotropic hypogonadism confirmed throughout the 29 years of follow-up, with permanent normal pituitary image. Other etiologies for hyperprolactinemia were excluded. Sexual dysfunction first began with hypoactive sexual desire and later central erectile dysfunction. Reflexogenic erection was normal, but was lost after chronic hyperprolactinemia. Bromocriptine normalized hyperprolactinemia, but hypogonadotropic hypogonadism persisted. Clomiphene administration improved hypogonadotropic hypogonadism and sexual dysfunction. Bromocriptine and clomiphene were mantained for 2 years. Clomiphene withdrawal did not cause a relapse. After bromocriptine withdrawal due to intolerance, a relapse of hyperprolactinemia and sexual dysfunction occurred. Cabergoline administration normalized hyperprolactinemia, but hypogonadotropic hypogonadism persisted. Testosterone replacement therapy was indicated because of the negative clomiphene response. Cabergoline withdrawal caused hyperprolactinemia and sexual dysfunction despite testosterone therapy. Cabergoline plus testosterone produce normal prolactin, testosterone and sexual function. This case of idiopathic hyperprolactinemia emphasizes the inhibitory role of prolactin in hypoactive sexual desire, erectile dysfunction and gonadal function (AU)

Conocimiento nosográfico y actitud de los internos de medicina del Hospital Nacional Arzobispo Loayza frente a pacientes con tuberculosis, Diciembre 2013 / Nosographic knowledge and attitudes of medicine interns at the National Hospital Archbishop Loayza front patients with tuberculosis, December 2013

Objetivo: Determinar la relación que existe entre el conocimiento nosográfico y la actitud de los internos de medicina del Hospital Nacional Arzobispo Loayza (HNAL) frente a pacientes diagnosticados con tuberculosis (TB). Materiales y Métodos: Se aplicaron encuestas sobre conocimientos y actitudes de los internos de medicina del HNAL frente a pacientes diagnosticados con TB. El conocimiento se consideró en tres apartados (general, vías de contagio y síntomas), que integrados mostraron el conocimiento global. Respecto a la parte actitudinal se consideró dos vertientes: la conducta ante una persona que padeció o padece de TB y la conducta a partir de la posibilidad de que la persona o un familiar contraiga o le sea diagnosticada la enfermedad; ya la integración de ambas como la actitud general. Se busco la relación entre conocimientos y actitudes mediante la prueba estadística de Chi Cuadrado, con un nivel de significancia de 0.05. Resultados: Se encuestaron a 86 internos de medicina. En conocimientos obtuvieron una evaluación adecuada, 38 (44.19 por ciento) en conocimiento general, 77 (89.53 por ciento) en sintomatología y 74 (86.05 por ciento) sobre vías de contagio y 58 (67.4 por ciento) de conocimiento global. Sobre la actitud ante una persona que padeció o padece de TB, 50 (58.14 por ciento) presentaron actitud positiva, 24 (27.91 por ciento) indiferente, 12 (13.95 por ciento) negativa; y respecto a la conducta a partir de la posibilidad de que la persona o un familiar contraiga o le sea diagnosticada TB, 64 (74.42 por ciento) positiva, 16 (18.60 por ciento) indiferente, 6 (6.98 por ciento) negativa. La actitud en general fue 52 (60.47 por ciento) positiva, 23 (26.74 por ciento) indiferente, 11 (12.79 por ciento) negativa. No se encontró relación entre los conocimientos y las actitudes frente a los pacientes con TB. Conclusiones: El nivel de conocimientos adecuado fue el que predominó con 67.4 por ciento, siendo los posibles síntomas el área con mayor...

Objective: To determine the relationship between nosographic knowledge and attitude of the medicine interns of the National Hospital Arzobispo Loayza towards patients diagnosed with tuberculosis (TB). Materials and Methods: Surveys of knowledge and attitudes of medicine interns towards patients diagnosed with TB were applied. Knowledge was considered in three sections (general, modes of transmission and symptoms), which integrated global knowledge. And the integration of behavior both as to a person who suffered or suffer of TB and behavior from the possibility that the person or family acquire or will be diagnosed with the disease; in the attitudinal part two parties considered general attitude. The relationship between knowledge and attitudes by Chi Square statistical test, with a significance level of 0.05. Results: We surveyed 86 medical evaluation, 38 (44.19 per cent) in general knowledge, 77 (89.53 per cent) in symptoms and 74 (86.05 per cent) on routes of infection and 58 (67.4 per cent) of global knowledge. On the approach to a person who suffered or suffers of TB, 50 (58.14 per cent) were positive, 24 (27.91 per cent) indifferent, 12 (13.95 per cent) negative, and regarding the conduct from the possibility that the person or family or you acquires or is diagnosed of TB, 64 (74.42 per cent) positive, 16 (18.60 per cent) indifferent, 6 (6.98 per cent) negative. The general attitude was 52 (60.47 per cent) positive, 23 (26.74 per cent) indifferent, 11 (12.79 per cent) negative. No relationship between knowledge and attitudes towards patients with TB was found. Conclusions: The appropriate level of knowledge predominated with 67.4 per cent, with the possible symptoms the area with greater confidence. The attitude of a person with TB, the attitude towards the possibility of acquiring the disease yourself or family and the general attitude towards was positive in more than 50 per cent. In level of knowledge does not significantly influence the attitudes of...

Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias.

BACKGROUND: The etiology of hypospadias is multifactorial. Abnormal androgenic secretion and/or action during the development of external genitalia may be involved in the etiology of this congenital malformation. This study explored CAG and GGN polymorphisms in the androgen receptor (AR) gene, which may affect its transcriptional activity, in patients with isolated hypospadias. METHODS: The length of the CAG/GGN polymorphisms was determined in 44 boys with non-severe (glandular) or severe (penile or penoscrotal) isolated hypospadias and with a normal hormonal evaluation. In addition, 79 healthy men, as controls, were studied. RESULTS: Mean CAG repeats were significantly higher in total and severe cases compared to controls (24.4 +/- 2.8 and 24.7 +/- 3.1 vs. 22.7 +/- 3.3, respectively; p<0.05, Student's t and Bonferroni test). In addition, a frequency of CAG alleles >23 was significantly different in total and severe cases compared to controls (70.5% and 74.1% vs. 39.2%, respectively, p<0.05, chi2 and Bonferroni test). The median number and the distribution of GGN polymorphisms were similar in cases and controls. CONCLUSION: Boys with isolated hypospadias have longer CAG alleles in their AR, which may be related with the development of this congenital malformation.

Analysis of 6 single-nucleotide polymorphisms in the androgen receptor gene in Chilean patients with primary spermatogenic failure.

Androgens are essential for spermatogenesis. It has been postulated that androgen activity is modulated directly or indirectly by genetic variability in the androgen receptor gene sequence, including CAG/GGN polymorphisms and single-nucleotide polymorphisms (SNP). In this study, the frequency of 6 SNPs that constitute a haplotype in the androgen receptor sequence was determined by enzyme restriction assays and allele-specific polymerase chain reactions in 117 secretory azo/oligozoospermic men (93 idiopathic and 24 excryptorchidic), and in 121 controls with normal spermatogenesis (42 obstructive and 79 normozoospermic men) whose hormonal measurements and length of CAG/GGN polymorphisms were previously determined. The frequency of these 6 SNPs was not different between patients and controls. A total of 10 haplotypes (HAPs 1-10) formed by these 6 SNPs were found, and one of these haplotypes was observed with high frequency in the total population (HAP1, 83.2%; P < .001, χ(2) test). The frequency of the 10 haplotypes was not different between patients and controls, except for HAP5, which was only detected in one patient with a history of bilateral cryptorchidism (P = 0.014, Bonferroni test). On the other hand, no associations were found between the haplotypes studied and shorter or longer CAG or GGN polymorphisms. Interestingly, we found that the CAG 21 allele, which was previously correlated with an increased risk of idiopathic spermatogenic impairment, was more frequently found among the less common haplotypes that have higher follicle-stimulating hormone serum levels. In summary, we did not find an increased frequency of particular haplotypes in infertile men with idiopathic spermatogenic impairment compared with control men; however, we found that the CAG 21 allele, which appears to be associated with male infertility, is observed at a significantly higher proportion among the less common androgen receptor haplotypes.

[Association of age with sperm DNA fragmentation]. / Aumento del daño en el ADN espermático en varones mayores de 40 años.

BACKGROUND: There is an association between aging ana an increased number of sperms with alterations in nuclear DNA. AIM: To study the association between age and fragmentation of sperm DNA. MATERIAL AND METHODS: Sixty two volunteers provided semen for analysis. These were separated in a group aged less than forty years and a second group aged more than forty years. Sperm DNA fragmentation was studied by TUNEL (terminal deoxynucleotidyl transferase-mediated 2'-deoxyuridine 5'-triphosphate nick end-labeling) and SCD (sperm chromatin dispersion test) assays. RESULTS: Compared with their younger counterparts, patients aged more than 40 years had a higher proportion of sperms with DNA fragmentation by TUNEL (20 ± 1.3 and 24 ± 1.9% respectively, p < 0.05) and SCD (22 ± 1.4 and 26 ± 1.6% respectively, p < 0.05). The results of both assays had a correlation coefficient of O.8. No differences between groups were observed for other seminal parameters. CONCLUSIONS: Sperm DNA fragmentation increases with age in males.

Aumento del daño en el ADN espermático en varones mayores de 40 años / Association of age with sperm DNA fragmentation

Background: There is an association between aging ana an increased number ofsperms with alterations in nuclear DNA. Aim: To study the association between age and fragmentation of sperm DNA. Material andMethods: Sixty two volunteers provided semen for analysis. These were separated in a group aged less than forty years and a second group aged more than forty years. Sperm DNA fragmentation was studied by TÚNEL (terminal deoxynucleotidyl transferase-mediated2'-deoxyuridine 5'-triphosphate nick end-labeling) and SCD (sperm chromatin dispersión test) assays. Results: Compared with theiryounger counterparts, patients aged more than 40years had a higher proportion ofsperms with DNA fragmentation by TÚNEL (20 ±1.3 and24 ± 1.9 percent respectively, p < 0.05) and SCD (22 ± 1.4 and26 ± 1.6 percent respectively, p < 0.05). The results ofboth assays had a correlation coefficientofO.8. No differences between groups were observed for other seminal parameters. Conclusions: Sperm DNA fragmentation increases with age in males.

Androgen receptor gene CAG and GGN repeat polymorphisms in Chilean men with primary severe spermatogenic failure.

There is ample documentation supporting the fact that androgens are required for normal spermatogenesis. A minority of infertile men have abnormal testosterone blood levels or mild androgen receptor mutations. We investigated the androgen receptor CAG and GGN repeat lengths in Chilean men with spermatogenic impairment. We studied 117 secretory azoospermic/oligozoospermic men (93 idiopathic and 24 excryptorchidic), without Y-chromosome microdeletions, and 121 controls with normal spermatogenesis (42 obstructive and 79 normozoospermic men). Peripheral blood was drawn to obtain genomic DNA for polymerase chain reaction and automated sequencing of CAG and GGN repeats. Testicular characterization included hormonal studies, physical evaluation, and seminal and biopsy analysis. The CAG and GGN polymorphism distributions were similar among idiopathic men, excryptorchidic men, and controls and among the different types of spermatogenic impairment. However, the proportion of the CAG 21 allele was significantly increased in idiopathic cases compared to controls (P = .012 by Bonferroni test, odds ratio = 2.99, 95% confidence interval, 1.27-7.0) and the CAG 32 allele only was observed in excryptorchidic patients (P < .0002, Bonferroni test). Idiopathic cases with Sertoli cell-only syndrome showed the highest proportion of the CAG 21 allele (P = .024, χ(2) test). On the other hand, in idiopathic cases and controls the most common GGN allele was 23, followed by 24, but an inverse relation was found among excryptorchidic cases. The joint distribution of CAG and GGN in control, idiopathic, and excryptorchidic groups did not show an association between the 2 allele repeat polymorphisms (P > 0.05, χ(2) test). Our results suggest that the CAG 21 allele seems to increase the risk of idiopathic Sertoli cell-only syndrome. Moreover, the GGN 24 allele could be contributing to deranged androgen receptor function, associated with cryptorchidism and spermatogenic failure.

[Extent of sperm DNA damage in spermatozoa from men examined for infertility. Relationship with oxidative stress]. / Aumento del daño en el ADN y estrés oxidativo en espermatozoides de pacientes con oligozoospermia idiopática y antecedentes de criptorquidismo.

BACKGROUND: Cryptorchidism and oligozoospermia are clinical conditions closely associated with impaired fertility. Oxidative stress and related sperm DNA damage have been identified as significant causes of male infertility. AIM: To determine the extent of sperm nuclear DNA damage in patients affected with idiopathic oligozoospermia or undescended testes and to examine its relationship with oxidative stress. PATIENTS AND METHODS: We studied 20 patients with idiopathic oligozoospermia and 18 with undescended testes (who previously underwent orchiopexy) and 25 normozoospermic healthy controls. All subjects underwent semen analysis. Sperm DNA damage was evaluated by the sperm chromatin structure assay/flow cytometry (SCSA-FCM) and by the dUTP-biotin nick end labeling (TUNEL) assay. Levels of reactive oxygen species (ROS) and total antioxidant capacity (TAC) were assessed by a chemiluminescence assay. RESULTS: DFI (percentage of sperm with denatured DNA) values and percentage of TUNEL positive cells were significantly greater in patients with oligozoospermia (DFI: 28.8+/-5.6; TUNEL+: 26.9+/-3.0) or cryptorchidism (DFI: 26.4+/-10.1; TUNEL+: 29.1+/-3.9), compared with controls (DFI: 7.1+/-0.9; TUNEL+: 14.2+/-1.2). Similarly, both groups of patients had significantly higher (p<0.01) levels of ROS. TAC levels did not differ between control and patient groups, suggesting that the DNA damage occurs before spermiation. CONCLUSIONS: Sperm DNA damage is significantly increased in men with idiopathic oligozoospermia and in cryptorchid subjects. The finding of increased ROS levels may indicate that seminal oxidative stress may be involved in the pathogenesis of sperm DNA damage in these patients.

Absence of Fas protein detection by flow cytometry in human spermatozoa.

OBJECTIVE: To investigate the expression of Fas protein on the surface of ejaculated spermatozoa of normozoospermic and nonnormozoospermic men. DESIGN: Prospective study. SETTING: University infertility clinic. PATIENT(S): Twenty-three volunteer normozoospermic men (controls) and 43 men undergoing infertility evaluation (cases). INTERVENTION(S): Analysis of ejaculated spermatozoa by indirect immunofluorescence of Fas protein by flow cytometry. MAIN OUTCOME MEASURE(S): Comparison of flow cytometric analysis of autofluorescence, control tests (secondary antibody and isotype control), and experimental tests (anti-Fas monoclonal antibody) in the spermatozoa of ejaculated samples. RESULT(S): No expression of Fas protein was found on the surface of ejaculated spermatozoa of controls and cases. CONCLUSION(S): The Fas molecules are not present in substantial amounts in the ejaculated spermatozoa of normozoospermic and nonnormozoospermic men. Therefore, our results do not support the "abortive apoptosis" theory.

YqTER deletion causes arrest of spermatogenesis in early puberty.

We report a 12-7/12 year-old male with obesity, eunuchoid proportions, genetic stigmata of Turner's syndrome and mild developmental delay. We investigated whether cytogenetic alterations could be responsible for his phenotype. Conventional karyotype in 70 peripheral blood cells was 45,X(15%)/46,XYqh-(85%). Dual FISH on 1,000 nuclei revealed 8% of X0 cells (DXZ1 X-centromeric probe) and 92% of XY cells (DYZ3 Y-centromeric probe). We studied Y chromosome microdeletions by PCR. The patient showed a terminal Yq deletion from the 5I interval including the AZFb and AZFc regions. FSH, LH and testosterone (468 ng/dl) were within the normal range for his age. At Tanner IV pubertal development the spermiogram showed azoospermia and the testicular aspirate spermatic arrest. The present report suggests that Y chromosome deletions including AZFb and AZFc regions may cause spermatogenic arrest in early puberty.