A human reproductive approach to the study of infertility in chimpanzees: An experience at Leon's Zoological Park, Mexico.

Great apes are mammals close to humans in their genetic, behavioral, social and evolutionary characteristics and new genomic information is revolutionizing our understanding of evolution in primates. However, all these species are endangered. While there are many global programs to protect these species, the International Union for Conservation of Nature (IUCN) projects that in a near future the wild populations will decrease significantly. Nowadays, the relevance of captive populations of great apes is becoming critical for research and understanding of pathophysiology of diseases. In this report, the evaluation of infertility in a group of captive chimpanzees maintained at Leon's Zoological Park using a human infertility protocol is described. Our results suggested that infertility in this group was due to low hormonal levels and sperm alterations in the male characterized by hormonal assessment and a sperm sample obtained by electroejaculation and cryopreserved using human protocols. In the females, it was demonstrated that it is possible to follow the follicular cycle using non-invasive methods based on morphological changes in genitalia, detection of blood in urine and measurement of hormones in saliva samples; concluding that fertility in females was normal. Also, we demonstrate that human artificial insemination procedures may be applied. Our human approach was successful in finding the infertility cause in this group of captive chimpanzees. In countries with limited resources, collaboration of zoos with human infertility clinics can be beneficial for research and management of reproductive aspects of great apes.

A rapidly progressive defective spermatogenesis in a Mexican family affected by spino-bulbar muscular atrophy.

Spino-bulbar muscular atrophy (SBMA) is an X-linked recessive adult progressive disorder affecting motor neurons. It is caused by a poly-glutamine tract expansion in the androgen receptor (AR) which generates protein aggregates that cannot be processed by proteasomes. A secondary mild androgen resistance is developed by AR dysfunction and patients present endocrine abnormalities including gynecomastia and poor function of testosterone in tissues; however, normally they are fertile. In this report we describe a Mexican family with three affected brothers with primary infertility caused by a progressive impairment of spermatogenesis leading to azoospermia before 40 years of age. They presented common features associated to patients affected by SMBA, such as gynecomastia, high level of CPK, muscle cramps, fasciculations, muscle wastage, and impaired swallowing. Two intracytoplasmic sperm injection (ICSI) cycles were performed in one of the patients resulting in fertilization failure. Molecular analysis of AR gene exon 1 revealed 54 CAG repeats in DNA extracted from leukocytes in affected patients and 22 repeats in the fertile non-affected brother. Severe impaired spermatogenesis of rapid progression has not been associated before to SBMA. This is the first report of assisted reproduction techniques indicated by male infertility in patients with this rare disorder. Further studies are required to confirm the unusual result of intracytoplasmic sperm injection cycles. We discuss the implications and possible pathogenesis of these unique features of SBMA in this family.

[Holt-Oram syndrome and portal extrahepatic hypertension. A case report]. / Síndrome de Holt-Oram asociado con hipertensión portal.

BACKGROUND: The Holt-Oram syndrome (HOS) is characterized by skeletal abnormalities, frequently accompanied by congenital cardiac defects. It was first described by Holt and Oram in 1960. It has a prevalence of 0.95/10,000 live newborns. The syndrome shows a dominant autosomic heritance with high penetrance. A mutation in the transcription gene factor TBX5 has been identified. This factor has been shown to be important in the heart and upper extremities development. CLINICAL CASE: A 17 year-old boy with muscle-skeletal abnormalities in forearms and hands, with implantation defects of thumbs and narrow shoulders as well as wide atrial septal defect type osteum secundum. He also showed portal cavernomatosus degeneration which conditioned portal extrahepatic hypertension and esophageal varicose veins. The diagnosis was established by clinical, radiological and auxiliary studies. His parents were also studied, and they did not show abnormalities. CONCLUSIONS: Two previous cases have been reported in the Mexican medical literature, both due to de novo genetic mutation. However, none has been associated with portal cavernomatosus degeneration and portal hypertension.

Genetic screening in infertile Mexican men: chromosomal abnormalities, Y chromosome deletions, and androgen receptor CAG repeat length.

In our study, we analyzed chromosomal abnormalities, Y chromosome deletions, androgen receptor CAG repeat length and their association with defective spermatogenesis in infertile Mexican men. Eighty-two infertile patients and 40 controls were screened for karyotypic abnormalities, Y chromosome microdeletions, and CAG repeats. Nine infertile males (11%) carried chromosomal abnormalities and 10 (12.2%) presented Y chromosome microdeletions. The mean CAG repeat length was 21.6 and 20.88 base pairs in idiopathic infertile males and controls, respectively. Our results suggest that chromosomal aberrations and Y-chromosomal microdeletions are related to male infertility in Mexican men. In addition, expansion of the CAG repeat segments of the androgen receptor is not correlated with male idiopathic infertility.

[Major and multiple birth defects in newborns of women attended in a tertiary care hospital]. / Defectos congénitos mayores y múltiples en neonatos de mujeres atendidas en un hospital de tercer nivel.

OBJECTIVE: To identify the frequency and type of major and multiple birth defects in live newborns of pregnant women attending at a tertiary care hospital. PATIENTS AND METHODS: A cross-sectional study was carried out during one year. There were included pregnant women who delivered neonates with a single major birth defect, or three minor birth defects, or one single major birth defect with two minor birth defects. A control group matched for sex without birth defects was included. We registered data of the mother, pregnant, newborn outcome and perinatal deaths caused by birth defects. RESULTS: Overall 17,546 pregnant women were included. There were 98 live newborns with birth defects (5.5 per 1000 live newborns). The most frequent birth defects were heart diseases (15.3%), gastrointestinal malformations (14.2%) and specific genetic syndromes (13.2%). Ten (13.2%) perinatal deaths were registered caused by birth defects. There were no difference between the groups in relation to maternal age, occupation, administered medications and number of appointments in antenatal care. Thirteen birth defects were diagnosed antenatal by ultrasound scanning. CONCLUSION: Since the repercussion of birth defects in the families and in hospital centers, it is important the collaborative work of a multidisciplinary team for diagnosing and treating these complications. These actions will contribute to enhance the outcome of the mother and newborn.

[Y chromosome micro-deletion identification in infertile males]. / Identificación de microdeleciones en el cromosoma Y en pacientes con infertilidad masculina.

UNLABELLED: Identifying the genetic causes of male infertility is very important, considering they account for 30-50% of reproductive problems among couples. Genetic abnormalities, among which Y chromosome microdeletions are found, are commonly detected in patients with non-obstructive azoospermia (0-4.3%). Most of these patients are eligible for intracytoplasmic sperm injection (ICSI) and this genetic defect can be inherited by male children. OBJECTIVE: Determining the prevalence of microdeletions in the Y chromosome in a group of Mexican patients presenting azoospermia and oligospermia, under treatment in the Infertility Clinics. MATERIALS AND METHODS: This study included 52 infertile men (cases): 36 with non-obstructive azoospermia, and 16 with oligospermia; and 50 men (controls) whose fertility had been validated. The genomic DNA of each individual was obtained from his EDTA and heparin treated blood, and the corresponding karyotype determined. The karyotype was analyzed using G banding techniques. Eighteen markers (STS) corresponding to the chromosome Y long arm (AZFa, b, c, and d zones) were amplified in each DNA sample in all cases--azoospermic, oligospermic and controls--using the PCR method. RESULTS: No chromosomal alterations were detected in the patients, and no Y chromosome microdeletions were detected in control cases. Five azoospermic patients (13.9%) presented microdeletions corresponding to the AZFb, c, and d zones, while no microdeletions were found in oligospermic patients. The frequency of microdeletions found in this study is very similar to that reported for other populations. CONCLUSIONS: This research not only reports the frequency of microdeletions in the Y chromosome in our population, but also contributes to the integration of a DNA bank for patients with idiopathic male infertility, which will be of great use in the search for the causes of this affection.