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Malignant testicular germ cell tumors in a father and two sons. Case report and literature review.

The authors report the 17th case of primary malignant testicular tumors in father-son pairs, the 61st case occurring in male first-degree relatives, and the first case identified in a father and two sons. The father had bilateral seminomas at ages 31 and 44 years. His oldest son developed left testicular teratoma with elements of seminoma and embryonal carcinoma at age 29 years. The second son developed pure seminoma of the right testicle at age 26 years. The father had mumps orchitis at age 17 years. None of the three had a history of cryptorchism, trauma, or hernia. Literature reports of familial testicular neoplasia are becoming more frequent, and evidence is presented that family history may represent a risk factor independent of cryptorchism for the development of testicular cancer. Aggressive follow-up of closely-related male relatives is advocated.

Adult↗

Three cases of familial ulcerative colitis--in a mother and two of her sons.

A pedigree of familial ulcerative colitis with their HLA haplotypes is reported. The mother and two children, the eldest and second of three sons were affected. The mother developed proctitis at age 35, and the lesion extended to the entire colon at the time of a relapse. The two sons developed ulcerative colitis in a similar fashion; total colitis, of moderate severity, developing at age 16 in both. The analysis of HLA haplotypes of all five family members suggested that the HLA responsible for ulcerative colitis in this family was not HLA B, C, or DR, but Aw24 and DQw1. The third son had the same HLA haplotype as the second son, and it was presumed that he would develop ulcerative colitis in the future. These cases, together with other cases of familial ulcerative colitis indicate that Aw24 and DQw1 are critical phenotypes for ulcerative colitis in Japan.

Adolescent↗

Axial osteomalacia. Clinical, laboratory and genetic investigation of an affected mother and son.

Axial osteomalacia--a rare osteosclerotic bone disorder characterized by axial skeleton pain, coarsening of the trabecular bone pattern on radiographs of the axial but not appendicular skeleton, and osteomalacia on biopsy of a rib or iliac crest--has been reported in 10 apparently sporadic cases, all of which were in middle-aged or elderly Caucasian men. The etiology is unknown but has been postulated to be a bone cell defect. We describe the clinical, laboratory, pathologic and family study of a black mother and son with axial osteomalacia associated with polycystic liver and kidney disease. Investigation of the son suggested that radiographic osteosclerosis can be detected in early adulthood. Limited skeletal survey of his three children revealed no abnormalities. Examination of undecalcified iliac crest bone after in vivo tetracycline labeling revealed severe osteomalacia in the son despite normal circulating calcium, inorganic phosphate and vitamin D metabolite levels and persistently elevated alkaline phosphatase activity. Although osteoblasts appeared flat and inactive, histochemical studies showed intense alkaline phosphatase activity in the osteoblasts along most trabecular bone surfaces. Electron microscopy revealed intact matrix vesicles within unmineralized osteoid. The presence also of unexplained myopathy in the son--characterized by proximal muscle weakness, persistently elevated circulating creatine phosphokinase levels and pathogenic changes of myopathy on biopsy of quadriceps muscle--together with impaired bone mineralization, suggests that a disorder of vitamin D action may be involved in the pathogenesis of this unusual condition. Axial osteomalacia affects blacks as well as Caucasians, women as well as men, may be familial, and may perhaps be a developmental abnormality inherited in association with polycystic kidney and liver disease.

Adolescent↗

Mothers' causal explanations for their son's schizophrenia: relationship to depression and guilt.

This study investigated the relationship between mothers' causal explanations for their son's schizophrenia and the depression and guilt mothers experience. Thirty-three mothers who were primary caregivers to a schizophrenic son were interviewed using the Causal Dimension Scale and the Multiscore Depression Inventory. Twenty-nine mothers generated 50 causal explanations for their son's schizophrenia. The most frequently cited causal category was physiological/biological factors. Guilt was associated with causal explanations characterized as internal, whereas depression was unrelated to causal dimensions. The findings support the need to assess mothers' causal explanations for their son's schizophrenia and to research the health consequences of causal explanations.

Adult↗

Violent men have more sons: further evidence for the generalized Trivers-Willard hypothesis (gTWH).

The generalized Trivers-Willard hypothesis (gTWH) [Kanazawa, S., 2005a. Big and tall parents have more sons; further generalizations of the Trivers-Willard hypothesis. J. Theor. Biol. 235, 583-590] proposes that parents who possess any heritable trait which increases the male reproductive success at a greater rate than female reproductive success in a given environment have a higher-than-expected offspring sex ratio, and parents who possess any heritable trait which increases the female reproductive success at a greater rate than male reproductive success in a given environment have a lower-than-expected offspring sex ratio. One heritable trait which increases the reproductive success of sons significantly more than that of daughters in the ancestral environment is the tendency toward violence and aggression. I therefore predict that violent parents have a higher-than-expected offspring sex ratio (more sons). The analysis of both American samples and a British sample demonstrates that battered women, who are mated to violent men, have significantly more sons than daughters.

Battered Women↗

Transmission of de novo mutations of the deleted in azoospermia genes from a severely oligozoospermic male to a son via intracytoplasmic sperm injection.

OBJECTIVE: To investigate the transmission of microdeletions in the deleted in azoospermia (DAZ) genes to a male offspring via intracytoplasmic sperm injection (ICSI). DESIGN: Case report. SETTING: Reproductive unit of a university teaching hospital. PATIENT(S): A 29-year-old, severely oligozoospermic male with microdeletions of the DAZ genes in Yq interval 6 and his son, who was conceived via ICSI. INTERVENTION(S): DNA screening for the microdeletions in Yq interval 6 with 24 sequence tagged sites with the use of polymerase chain reaction amplification for the patient, the patient's father, and the patient's son. Paternity identification was performed using nine hypervariable short tandem repeats. MAIN OUTCOME MEASURE(S): Deletion mapping of Yq interval 6 from sequence tagged sites and electropherogram of short tandem repeats for DNA fingerprinting. RESULT(S): The son had the same microdeletions of the DAZ genes as the patient, and the patient's father had normal DAZ genes. The paternity of the patient, the patient's father, and the patient's son was verified. CONCLUSION(S): De novo DAZ microdeletions in an infertile male can be transmitted to a male offspring via ICSI. DNA screening tests for DAZ genes before ICSI may help in the genetic counseling of patients with idiopathic azoospermia or severe oligozoospermia.

Adult↗

Hypospadias in sons of women exposed to diethylstilbestrol in utero: a cohort study.

BACKGROUND: Transgenerational effects of diethylstilbestrol (DES) have been reported in animals, but effects in human beings are unknown. Alerted by two case reports, we aimed to establish the risk of hypospadias in the sons of women who were exposed to DES in utero. METHODS: We did a cohort study of all sons of a Dutch cohort of 16284 women with a diagnosis of fertility problems. We used a mailed questionnaire assessing late effects of fertility treatment to identify boys with hypospadias. We compared the prevalence rate of hypospadias between boys with and without maternal DES exposure in utero. FINDINGS: 16284 mothers (response rate 67%) reported 8934 sons. The mothers of 205 boys reported DES exposure in utero. Four of these children were reported to have hypospadias. In the remaining 8729 children, only eight cases of hypospadias were reported (prevalence ratio 21.3 [95% CI 6.5-70.1]). All cases of hypospadias were medically confirmed. Maternal age or fertility treatment did not affect the risk of hypospadias. Children conceived after assisted reproductive techniques such as in-vitro fertilisation were not at increased risk of hypospadias compared with children conceived naturally (1.8, 0.6-5.7). INTERPRETATION: Our findings suggest an increased risk of hypospadias in the sons of women exposed to DES in utero. Although the absolute risk of this anomaly is small, this transgenerational effect of DES warrants additional studies.

Cohort Studies↗

Effects of mother-son incest and positive perceptions of sexual abuse experiences on the psychosocial adjustment of clinic-referred men.

OBJECTIVE: The primary objective was to examine the long-term impact of mother-son incest and positive initial perceptions of sexual abuse experiences on adult male psychosocial functioning. METHOD: Sixty-seven clinic-referred men with a history of sexual abuse participated. The participants completed self-report measures regarding their current psychosocial functioning and described the nature of their sexual and physical abuse experiences during childhood. RESULTS: Seventeen men reported mother-son incest, and these men endorsed more trauma symptoms than did other sexually abused men, even after controlling for a history of multiple perpetrators and physical abuse. Mother-son incest was likely to be subtle, involving behaviors that may be difficult to distinguish from normal caregiving (e.g., genital touching), despite the potentially serious long-term consequences. Twenty-seven men recalled positive or mixed initial perceptions of the abuse, including about half of the men who had been abused by their mothers. These men reported more adjustment problems than did men who recalled purely negative initial perceptions. CONCLUSIONS: Mother-son incest and positive initial perceptions of sexual abuse experiences both appear to be risk factors for more severe psychosocial adjustment problems among clinic-referred men.

Adaptation, Psychological↗

Fertility norms and son preference in Morocco and Tunisia: does women's status matter?

This paper investigates the normative and behavioural dimensions of son preference in Morocco and Tunisia, using data from the Demographic and Health Surveys of the two countries. It considers three measures of son preference: (1) mothers' ideal number of children, and any preference for having more sons than daughters; (2) the desire for additional children, given their existing family; (3) reported use of contraception in relation to the existing number of children of each sex. The analyses indicate a moderate preference for sons in both countries, and suggest that this preference is somewhat stronger in Tunisia. These findings are interpreted within the cultural context of the two countries, and in particular societal notions of women's status.

Adolescent↗

A social component in the negative effect of sons on maternal longevity in pre-industrial humans.

Due to their effect on maternal testosterone levels, sons are said to have reduced maternal longevity in pre-industrial humans. This analysis, using information from a Flemish agricultural village in the 18th-20th centuries, confirms the presence of a negative effect of sons on maternal longevity. However, the effect is mainly observed for mothers belonging to the least privileged social group and for sons surviving their fifth birthday. Both findings make the above-mentioned biological explanation relative. However, a plausible alternative, social interpretation is male-dominated intra-household resource competition. It is reasonable to assume that only sons above a certain age are able to claim a serious amount of resources and that competition is strongest within the least privileged social group.

Belgium↗

Mothers' and sons' cognitive and emotional reactions to stimulated marital and family conflict.

This study examined cognitive and emotional reactions to family discussions as experienced by sons and mothers from homes with physically aggressive (PA), verbally aggressive (VA), and low-conflict (LC) marital relationships. Boys of PA couples demonstrated more self-interference, self-distraction, and arousal and less criticism than did other sons in reaction to stimulated parental conflict. Boys of LC parents were more optimistic about family conflict and articulated more ideas concerning family structure and how conflict "should" proceed than did other sons. PA mothers made more positive evaluations and offered more autocratic suggestions than did VA mothers. Also, LC mothers, compared with both conflictual groups, made more democratic statements in response to low-conflict situations. These results indicate that marital conflict experienced in the home may influence sons' and mothers' appraisals of family and marital interactions.

Adaptation, Psychological↗

Mammalian sex ratios and variation in costs of rearing sons and daughters.

In red deer, the sex ratio of calves at birth (calculated as the proportion of calves born that are male) increases with the dominance rank of the mother, whereas opposite trends exist in several populations of macaques and baboons. Here we show that the subsequent survival and reproductive success of subordinate female red deer is depressed more by rearing sons than by rearing daughters, whereas the subsequent fitness of dominant females is unaffected by the sex of their present offspring. By contrast, among subordinate female macaques, the rearing of daughters has greater costs to the mother's subsequent fitness than does the rearing of sons, although again, no difference in the costs of rearing sons and daughters is found among dominant mothers. These findings indicate that both differences in the relative fitness of sons and daughters and differences in the relative costs of rearing male and female offspring can favour variation in the sex ratio.

Animals↗

Offspring sex ratios in tree swallows: females in better condition produce more sons.

Organisms are expected to adjust the sex ratio of their offspring in relation to the relative fitness benefits of sons and daughters. We used a molecular sexing technique that amplifies an intron of the CHD1 gene in birds to examine the sex ratio at egg-laying in socially monogamous tree swallows (Tachycineta bicolor). We examined all individuals in 40 broods (210 young), including all unhatched eggs and nestlings. Thus, the sex ratio we measured was the same as the sex ratio at laying. Overall, the mean sex ratio per brood (+/- SD) was biased significantly towards males (57 +/- 2% male). Within broods, male-biased sex ratios were associated with females in better body condition, and these females were more likely to produce sons in better condition. Tree swallows have one of the highest known levels of extra-pair paternity in birds (38-76% extra-pair young), and, as a consequence, variance in male reproductive success is greater than that of females. Thus, in tree swallows, investment in sons has the potential for higher fitness returns than investment in daughters, assuming that sons in better condition have greater reproductive success.

Animals↗

Caring for frail elderly parents: a comparison of adult sons and daughters.

This research examines the impact of various factors on perceived emotional strain of adult son and daughter caregivers of frail elderly parents. Daughters experienced higher levels of emotional strain than did sons. Perceived interference between caregiving and the caregiver's personal and social life predicted emotional strain for both sons and daughters. For daughters the most important predictors of emotional strain were interference with work and quality of relationship with the parent. For sons the most important predictors were behavioral problems of the parent and few informal helpers.

Activities of Daily Living↗

The influence of parental bonding on emotional distress in caregiving sons for a parent with dementia.

PURPOSE: The purpose of this study was to investigate the influence of childhood parental bonding on emotional distress experienced by primary caregiving sons for a parent with dementia. DESIGN AND METHODS: Data from the 40 participants were obtained using the Parental Bonding Inventory (PBI), Brief Symptom Inventory (BSI), and Caregiver Survey Questionnaire (CSQ). A multivariate analysis of variance was conducted to investigate any main effects or interaction between the two PBI bonding variables (care and overprotection) and the two distress variables, the BSI's Global Severity Index and the CSQ's distress percentage. RESULTS: Caregiving sons who identified more care in the childhood bond with their parent attributed less distress to their primary caregiver role. Sons reporting less care attributed more distress to the primary caregiver role. IMPLICATIONS: Results suggest that the parental bond developed during childhood may play a role in predicting the extent to which caregiving sons will attribute distress to their caregiving role.

Adult↗

Enhancing adolescent health behaviors through strengthening non-resident father-son relationships: a model for intervention with African-American families.

This paper provides a description of and rationale for components of a theoretically based conceptual model that guided the development and implementation of the Fathers and Sons Intervention Program. Using a community-based participatory research process, this intervention was designed to prevent risky health behaviors through strengthening father-son relationships among non-resident African-American fathers and their pre-adolescent sons. The implications of the conceptual model for future interventions with African-American fathers and sons are discussed.

Adolescent↗

Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility.

Deletion of the AZFc region of the Y chromosome is the most frequent molecularly defined cause of spermatogenic failure. We report three unrelated men in whom azoospermia or severe oligozoospermia was caused by de-novo AZFc deletions, and who produced sons by intracytoplasmic sperm injection (ICSI). We employed polymerase chain reaction (PCR) assays to examine the Y chromosomes of their four infant sons. All four sons were found to have inherited the Y chromosome deletions. Such sons are likely to be infertile as adults. This likelihood should be taken into account when counselling couples considering ICSI to circumvent infertility due to severe oligozoospermia or non-obstructive azoospermia.

Adult↗

Upregulation of neuronal NOS mRNA in the PVN and SON of inherited diabetes insipidus rats.

We investigated the expression of neuronal nitric oxide synthase (nNOS) gene in the paraventricular (PVN) and supraoptic nuclei (SON) of rats with inherited diabetes insipidus (DI), using in situ hybridization histochemistry. The DI rats showed hypo-osmotic polyuria and polydipsia with arginine vasopressin (AVP) deficiency. The expression of nNOS gene in the PVN and SON in homozygous (di/di) rats was significantly increased in comparison to normal Wistar and heterozygous (di/+) rats. nNOS gene-expressing cells were distributed throughout the PVN and SON, including the divisions of AVP and oxytocin gene expressing cells in di/di rats. These results suggest that the expression of nNOS gene is upregulated in the magnocellular neurons in the PVN and SON of inherited DI rats.

Animals↗