Torsades de Pointes is a life-threatening arrhythmia associated with a number of causes, but is very rare among endocrinologic disorders. We report a case of male pseudohermaphroditism with hyperaldosteronism due to a 17alpha-hydroxylase deficiency presented with sudden cardiac arrest.
46, XY Disorders of Sex Development/*diagnosis/drug therapy ; Adult ; Death, Sudden, Cardiac/*etiology/*pathology ; Female ; Humans

Paraphilia is a psychiatric disease that has been difficult to cure. However, recently developed therapeutic methods hold promise. The patient was a 20-yr-old male with chief complaints of continuous masturbation, genital exposure, and aggressive behavior that started 2 yr ago. We administered leuprorelin 3.6 mg intramuscular injection per month, a depot gonadotrophin-releasing hormone analogue, to this patient who a severe mentally retardation with paraphilia. The clinical global impression (CGI)-severity, CGI-improvement and aberrant behavior checklist were performed. After one month, we observed significant improvement in symptoms, such as decreases of abnormal sexual behavior and sexual desire. The GnRH analogues are suggested to be used as an alternative or supplementary therapeutic method for sexual offenders after clinical studies.
Humans ; Leuprolide/pharmacology/*therapeutic use ; Male ; Mental Disorders/complications/diagnosis/*drug therapy ; Paraphilias/complications/diagnosis/*drug therapy ; Sex Offenses/prevention & control ; Sexual Behavior/drug effects ; Young Adult

OBJECTIVE: To investigate the efficacy and safety of aromatase inhibitor letrozole in treatment of male children with disorders of sex development (DSD). METHODS: Clinical data of 12 male DSD children with a mean age of 14.6±2.5 years admitted to Peking Union Medical College Hospital from January 2014 to January 2016 were retrospectively analyzed. The patients were treated with letrozole (1.25-2.5 mg, once a day) for 3 months or longer, and followed up for 0.5-2.5 years. Clinical manifestation and laboratory test findings were documented, and the efficacy and safety were evaluated. RESULTS: After half-year treatment, the blood luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone levels of patients increased (all < 0.05), and estrogen levels decreased from baseline ( < 0.05). After 1 year of treatment, the blood testosterone level was significantly higher ( < 0.05); the LH and FSH levels tended to increase and the estrogen level tended to decrease, but there was no significant statistical difference ( >0.05). Semen was routinely detected in 8 patients, and sperms were detected in semen of 3 patients with hypospadias. There were no significant changes in biochemical results after treatment, and no significant adverse event was observed during the treatment. CONCLUSIONS Letrozole can effectively increase testosterone levels in patients with disorders of sex development and promote spermatogenesis, it has no significant adverse effects in short-term administration.
Adolescent ; Child ; Disorders of Sex Development ; drug therapy ; Follicle Stimulating Hormone ; Humans ; Letrozole ; therapeutic use ; Luteinizing Hormone ; Male ; Retrospective Studies ; Testosterone

SS-cream made with extracts from natural products is a topical agent for treating premature ejaculation (PE). In order to elucidate the penile vibratory threshold changes and clinical effects of various doses of SS-cream, 53 patients with primary PE were investigated in a double-blind randomized placebo-controlled study. The mean age was 37.3 +/- 6.4 years and mean ejaculatory latency was 1.37 +/- 0.52 minutes. Neither the patients nor their sexual partners were satisfied with their sexual lives. Vibratory threshold at the glans penis, penile shaft, scrotum and index finger were measured using a biothesiometer twice during the screening period and three times one hour after the application of respective creams (SS-cream 0.05, 0.10. 0.15, 0.20 gm and placebo 0.10 gm) on the glans penis according to the order of the allocation table in a randomized fashion. The efficacy of SS-cream was defined as when the vibration threshold increased by more than 4 microns compared to the value tested during the screening period. The vibratory thresholds at the glans penis increased significantly in a dose-dependent manner after the application of various doses (0.05, 0.10, 0.15, 0.20 gm) of SS-cream (p < 0.001), and the efficacy of SS-cream on the penile vibration threshold increased according to the increased dosage (penile shaft: 48.4, 51.6, 54.8, 64.5%, glans penis: 58.1, 67.7, 77.4, 83.9%, respectively). With these results, we concluded that SS-cream increased the penile sensory threshold dose dependently, and therefore it is clinically effective for treating the heightened penile sensory response in patients with PE.
Adult ; Double-Blind Method ; Ejaculation/drug effects* ; Human ; Male ; Penis/physiopathology* ; Plant Extracts/therapeutic use* ; Plants, Medicinal* ; Sensory Thresholds ; Sex Disorders/physiopathology* ; Sex Disorders/drug therapy* ; Time Factors ; Vibration*

Disorders of sex development (DSD) is defined as a congenital condition or atypical development of the chromosomal, gonadal, or anatomic sex. The diagnosis, gender assignment, and treatment of DSD require the guidance from experienced multidisciplinary teams. So far there has been no consensus about it in China. Due to dysgenetic gonads, defects in sex steroid biosynthesis or action, or gonadectomy during the prepubertal years, those with DSD suffer from hypogonadism. The hormone replacement therapy of DSD aims at general physiological health and long-term prognosis as well as the avoidance of unnecessary genital and gonadal surgery. This review focuses on the advances in the studies of the diagnosis and hormone replacement therapy of 46,XY DSD.
46, XY Disorders of Sex Development ; diagnosis ; drug therapy ; China ; Gonadal Steroid Hormones ; biosynthesis ; Gonads ; growth & development ; Hormone Replacement Therapy ; Humans ; Male ; Prognosis

OBJECTIVETo understand that whether initiation of antiretroviral therapy (ART) would impact on the change and its reasons regarding the HIV-related high risk behaviors among HIV-positive clients who attending the methadone maintenance treatment (MMT).

METHODSIn-depth interviews were conducted among 34 MMT clients in Yunnan province who were under ART. The related contents would include information on general demographic charicteristics, HIV infection,MMT, number of sexual partners before and after ART, sexual behavior and frequency of condom use, drug use, needle sharing, changes in risk behaviors before and after the ART, reasons for high-risk behavior, of the clients.

RESULTSThe average age of the interviewees was 38.5 years, and most of them were male (70.6%). The clients under this study all admitted that the frequencies of unsafe sex and needle sharing did not increase after the ART initiation, with the main reasons as increasing HIV related awareness, the use of methadone, high accessibility of free condoms and access to clean needles etc. However, 12 of 34 reported being relapsed and 3 reported inconsistent condom use. The interaction of ART and dosage of methadone were connected to the episodes of relapsing and the ART optimism would result in inconsistent condom use.

CONCLUSIONNo evidence supported that the ART initiation would increase the risk behaviors among the HIV-infected MMT clients. However, attention needs to be paid to the new challenges caused by high expectation of ART.

Adult ; China ; epidemiology ; Condoms ; Female ; HIV Infections ; epidemiology ; Humans ; Male ; Methadone ; therapeutic use ; Needle Sharing ; Opiate Substitution Treatment ; Qualitative Research ; Risk-Taking ; Safe Sex ; Sexual Behavior ; Sexual Partners ; Substance-Related Disorders ; drug therapy ; Unsafe Sex

Estrogen is implicated as playing an important role in aging and tumorigenesis of estrogen responsive tissues; however the mechanisms underlying the mitogenic actions of estrogen are not fully understood. Here we report that estrogen deficiency in mice caused by targeted disruption of the aromatase gene results in a significant inhibition of telomerase maintenance of telomeres in mouse ovaries in a tissue-specific manner. The inhibition entails a significant shortening of telomeres and compromised proliferation in the follicular granulosa cell compartment of ovary. Gene expression analysis showed decreased levels of proto-oncogene c-Myc and the telomerase catalytic subunit, telomerase reverse transcriptase (TERT), in response to estrogen deficiency. Estrogen replacement therapy led to increases in TERT gene expression, telomerase activity, telomere length and ovarian tissue growth, thereby reinstating ovary development to normal in four weeks. Our data demonstrate for the first time that telomere maintenance is the primary mechanism mediating the mitogenic effect of estrogen on ovarian granulosa cell proliferation by upregulating the genes of c-Myc and TERT in vivo. Estrogen deficiency or over-activity may cause ovarian tissue aging or tumorigenesis, respectively, through estrogen regulation of telomere remodeling.
46, XX Disorders of Sex Development ; drug therapy ; genetics ; metabolism ; Aging ; genetics ; metabolism ; Animals ; Aromatase ; deficiency ; genetics ; metabolism ; Cell Proliferation ; drug effects ; Estrogen Replacement Therapy ; Estrogens ; deficiency ; pharmacology ; Female ; Gene Expression ; Genes, myc ; genetics ; Granulosa Cells ; drug effects ; metabolism ; pathology ; Gynecomastia ; drug therapy ; genetics ; metabolism ; Humans ; Infertility, Male ; drug therapy ; genetics ; metabolism ; Metabolism, Inborn Errors ; drug therapy ; genetics ; metabolism ; Mice ; Mice, Knockout ; Telomerase ; genetics ; metabolism ; Telomere ; chemistry ; metabolism ; pathology

Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.
17-alpha-Hydroxyprogesterone/blood ; 46, XY Disorders of Sex Development/drug therapy/*genetics ; Adolescent ; Adrenal Hyperplasia, Congenital/drug therapy/*genetics ; Adrenal Insufficiency/*congenital/diagnosis/drug therapy/genetics ; Adrenocorticotropic Hormone/*metabolism ; Bone Development/genetics ; Child ; Child, Preschool ; DAX-1 Orphan Nuclear Receptor/genetics ; Female ; Genetic Diseases, X-Linked/drug therapy/*genetics ; Genotype ; Glucocorticoids/therapeutic use ; Humans ; Intellectual Disability/complications ; Male ; Mineralocorticoids/therapeutic use ; Obesity/complications ; Phosphoproteins/genetics ; Puberty, Precocious/complications ; Retrospective Studies ; Steroid 21-Hydroxylase/genetics