ABSTRACT
Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here, we describe four adolescent girls referred for pubertal virilization and in whom we diagnosed a 46,XY DSD. We performed gene mutation screening by Sanger sequencing (all patients) and by next-generation sequencing (NGS) in patient #4. We identified new heterozygous NR5A1 gene variants in patients #1 and #2 and a homozygous SRD5A2 gene deletion in patient #3. Patient #4 received a diagnosis of complete androgen insensitivity in childhood; however, due the unusual pubertal virilization, we completed the gene analysis by NGS that revealed two heterozygous HSD17B3 variants. This work underlines the importance of considering the hypothesis of 46,XY DSD in adolescent girls with unexplained virilization at puberty.
ABSTRACT
BACKGROUND: Human toxicity of bisphenol A (BPA), a weak estrogenic environmental endocrine disrupting compound, widely used in plastics, baby bottles, cans and dental sealants, is under investigation. Fetal or perinatal exposure in rodents is associated with programmed adult reproductive diseases. Human epidemiological studies remain scarce, especially concerning testicular development. We have investigated the relationship between fetal exposure to BPA and cryptorchidism. METHODS: Using a radioimmunoassay performed after extraction, validated by high-performance liquid chromatography and mass spectrometry, active levels of unconjugated BPA (uBPA) in cord blood (CB) were measured in 152 boys born after 34 weeks gestation, with cryptorchid or descended testes. RESULTS: Active uBPA was detectable in all CB samples, with values in the control group (n = 106) of 0.14-4.76 ng/ml, median: 0.9 ng/ml; mean ± SD: 1.12 ng/ml ± 0.86 ng/ml, which did not differ from cryptorchid boys (n = 46, 1.26 ± 1.13 ng/ml, P = 0.38). uBPA in controls correlated with CB inhibin B (P < 0.01) and total testosterone (P < 0.05), and with maternal milk polychlorinated bisphenyl 138 (P < 0.03). uBPA did not correlate with clinical maternal or fetal parameters or with other steroid or polypeptide CB hormones assessed. CONCLUSIONS: The presence of uBPA in all CB samples suggests placental transfer and fetal exposure. Similar uBPA levels in the control and cryptorchid groups make the participation of fetal exposure to uBPA in the physiopathology of undescended testes unlikely. However, the observed nanomolar uBPA concentrations support assessment of epidemiological relationships between CB uBPA and other human diseases.
Subject(s)
Boron Compounds/blood , Cryptorchidism/blood , Endocrine Disruptors/blood , Environmental Exposure/analysis , Fetal Blood/metabolism , Phenylalanine/analogs & derivatives , Boron Compounds/toxicity , Chromatography, High Pressure Liquid , Endocrine Disruptors/toxicity , Female , Humans , Infant, Newborn , Male , Mass Spectrometry , Milk, Human/chemistry , Phenylalanine/blood , Phenylalanine/toxicity , Pregnancy , Prenatal Exposure Delayed Effects , Testosterone/bloodABSTRACT
To assess the incidence and risk factors of cryptorchidism in Nice area. A 3-year prospective study was conducted at two maternity wards involving neonatal screening of boys born ≥34weeks of amenorrhoea. Methodology was strict with examination at birth, 3 and 12months by the same paediatrician. Two strictly matched controls were included for each case. Information on child and parents (medical history, pregnancy, lifestyle) was recorded using medical chart and self-administered questionnaires. A total of 102 of 6246 boys were born with cryptorchidism (prevalence 1.6%, 95 included). Half of them were still cryptorchid at three and 12months with, however, 10% of secondary re-ascent (recurrent cryptorchidism) at 12months, justifying long-term follow-up. Cryptorchidism at birth was associated with instrumental delivery, inguinal hernia and urogenital malformations, particularly micropenis and paternal history of cryptorchidism. Our results suggest that maternal exposure to anti-rust or phthalates could be a risk factor, whereas eating fruits daily seemed somewhat protective. Prevalence of cryptorchidism in our area is on the lower bracket compared with other countries, and is associated with both familial and environmental risk factors.
Subject(s)
Cryptorchidism/epidemiology , Case-Control Studies , Cryptorchidism/etiology , Female , France/epidemiology , Humans , Infant , Infant, Newborn , Male , Maternal Exposure/adverse effects , Pregnancy , Prevalence , Prospective Studies , Risk FactorsABSTRACT
OBJECTIVE: Numerous maternal lipophilic compounds are eliminated into milk during lactation, their concentrations reflecting fetal in utero exposure. Some of them are endocrine disruptors. Their role in the occurrence of genital malformation, dysfunction or cancer has been suggested. We wanted to study the exposure of our population and its potential association with cryptorchidism, as few clinical studies are available. PATIENTS AND METHODS: Over three years, we screened for cryptorchidism all boys born alive at or above 34 weeks of gestational age, in two maternity wards (CHU Nice, CHG Grasse). Cryptorchid boys were matched with two controls. Nursing mothers provided a colostrum sample that was screened for 15 compounds known for their antiandrogenic and/or anti estrogenic properties, including dichloro-diphenyl-trichloro-ethylene (DDE), polychlorinated biphenyls (PCBs), dibutylphthalate (DBP) (& metabolite monobutylphthalate-mBP) and hexachlorobenzene (HCB). RESULTS: Out of 6246 boys, 102 were cryptorchid (1.6%). All available colostrums (56 for cryptorchid and 69 for controls) were contaminated. Median concentrations of DDE, PCBs, HCB and phthalates were higher though not significantly in cryptorchid versus controls. Cryptorchid boys were more likely to be classified in the most contaminated groups for DDE and SigmaPCBs, with a trend for mBP. Odds ratio (OR) for cryptorchidism was increased for the highest score of SigmaPCB, with a trend only for DDE versus the lowest score of those components. Our results are similar to those of a Scandinavian study with comparable design. DISCUSSION AND CONCLUSIONS: Our results show the universal contamination of milk with endocrine disruptors in our area, and support the association between congenital cryptorchidism and fetal exposure to PCBs and possibly DDE, alone or in association with other chemicals.
Subject(s)
Colostrum/chemistry , Cryptorchidism/chemically induced , Maternal Exposure/adverse effects , Milk, Human/chemistry , Pesticides/toxicity , Adult , Case-Control Studies , Cryptorchidism/epidemiology , Dichlorodiphenyl Dichloroethylene/analysis , Dichlorodiphenyl Dichloroethylene/toxicity , Environmental Pollution , Female , Humans , Infant, Newborn , Male , Pesticides/analysis , Polychlorinated Biphenyls/analysis , Polychlorinated Biphenyls/toxicityABSTRACT
In children, pseudohypoparathyroidism (PHP) is a rare but classical cause of basal ganglia calcifications. It is caused by resistance to parathormone (PTH). Hypocalcemia, which may be symptomatic, is its main feature. We report the case of a 13-year-old boy, affected by type Ib PHP revealed by hypocalcemia and seizures, with basal ganglia calcifications on the CT scan. We describe the characteristics of the 2 main types of PHP and emphasize the search for this disease when basal ganglia calcifications are discovered, even fortuitously, on a cerebral CT scan.
Subject(s)
Basal Ganglia Diseases/etiology , Calcinosis/etiology , Pseudohypoparathyroidism/diagnosis , Adolescent , Basal Ganglia Diseases/diagnostic imaging , Calcinosis/diagnostic imaging , Humans , Hypocalcemia/etiology , Male , Radiography , Seizures/etiologyABSTRACT
The cognitive-environmental model (CEM; M. Fishbein et al., 1991) was used to understand the unprotected sexual behaviors of 156 gay, lesbian, and bisexual youths. Unprotected anal sex among the males was associated directly with poor protection skills (e.g., incorrect use of barrier methods, such as condoms), poor intentions to use barrier methods, and poor norms by sexual partners concerning barrier methods. Furthermore, the association between low self-efficacy and increasing unprotected anal sex was attributed to poor intentions. Direct associations of unprotected oral sex with poor intentions and poor partner norms also emerged, as did an indirect relation between unprotected oral sex and low self-efficacy via poor intentions. These last 3 findings were replicated when examining unprotected oral or vaginal-digital sex among the females. Relations among the CEM factors supported some CEM-theoretical propositions.
Subject(s)
Bisexuality/psychology , Cognition , Environment , Homosexuality/psychology , Sexual Behavior/psychology , Adolescent , Adult , Female , Humans , Male , Risk-Taking , Social Desirability , Surveys and QuestionnairesABSTRACT
Relationships between sexual abuse and sexual risk, substance use, emotional distress, and conduct problems were examined among 190 runaways. Those who had been abused were significantly more likely than nonabused peers to engage in unprotected sex, have more sexual partners, and use alcohol and drugs, but did not differ in emotional distress. Those abused after age 13 were more often engaged in sex work than nonabused peers. Males abused before age 13 had more sexual partners than those not abused, and runaway males were significantly more likely to have been sexually abused than has been reported in prior research.
Subject(s)
Homeless Youth , Risk-Taking , Sex Offenses , Adolescent , Adolescent Behavior , Female , Humans , Male , Self Concept , Sexual BehaviorABSTRACT
PIP: The Massachusetts Supreme Judicial Court unanimously supported the condom availability program of the Falmouth School District. The program allows students in grades 7-12 full access to condoms without prior parental consent. Before the junior high students can receive counseling, however, they must first undergo counseling. Like the high school students (who have access to counseling, but do not require it before receiving condoms), junior high school students also have access to informational pamphlets. The court rejected the parents' claims that the program infringed on their rights as parents since students are free to decline to participate in the program and the parents are free to tell their children not to participate. In January 1996, the US Supreme Court refused to review this case and provided no comment or recorded dissent. On the other hand, in 1993, the New York appellate court, in a 3-2 decision, found that the condom availability program of New York City public schools coerced parents to surrender their rights to raise their children without undue interference from the state. When New York City later offered parents an opt-out, fewer than 1% of parents of high school students selected it. A clear history of legal precedent supports a minor's right to consent to the receipt of medical services related to sexuality and reproductive health. There is currently a challenge to the condom availability program in the Philadelphia public schools, which offers an opt-out provision for parents who do not want their children to participate in the program. The challenge revolves around the supposition that parental consent is needed for some medical services, in this case provision of condoms. What makes this case unique is that parents who support the condom program are parties in the lawsuit. The unpredictability of school districts and local governing bodies do not guarantee the success of implementing comprehensive school-based AIDS education programs. Some parents and conservative groups will continue to fight condom availability programs.^ieng
Subject(s)
Acquired Immunodeficiency Syndrome/prevention & control , Condoms/supply & distribution , HIV Infections/prevention & control , School Health Services/legislation & jurisprudence , Sexually Transmitted Diseases/prevention & control , Acquired Immunodeficiency Syndrome/transmission , Adolescent , Female , HIV Infections/transmission , Humans , Legal Guardians , Male , Massachusetts , Risk Factors , Sexually Transmitted Diseases/transmissionABSTRACT
Prevention of human immunodeficiency virus (HIV) and acquired immunodeficiency syndrome (AIDS) among adolescents is increasingly recognized as an important public health priority. Sexual risk acts associated with HIV/AIDS transmission (unprotected sexual intercourse with multiple partners of unknown serostatus) are typically initiated by late adolescence, with many youths engaging in sexual relations earlier. Despite being well informed about HIV/AIDS and having positive attitudes toward HIV/AIDS prevention, adolescents have not changed their behavior in response to the pandemic. AIDS-prevention programs must be tailored to consider stereotypic sex roles, gay youths' sexual orientation, and substance abuse. Intensive prevention programs focusing on helping youths perceive HIV as a problem, motivate them to act safely, and implement safe acts by acquiring coping skills, access to condoms and health care, and identifying individual barriers to implementing safe acts have successfully reduced adolescents' risk acts. However, avenues for broad-scale dissemination of such programs or alternative models to change youths' behaviors must be identified.