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Female Pseudohermaphroditism

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21. Childhood Cancer Genomics (PDQ®): Health Professional Version

abnormal chromosome).[ ] It occurs in approximately 2% of B-ALL cases and is associated with older age (median, approximately 10 years), presenting WBC of less than 50 × 10 9 /L, a slight female preponderance, and high end-induction MRD.[ - ] The United Kingdom Acute Lymphoblastic Leukaemia (UKALL) clinical trials group initially reported that the presence of iAMP21 conferred a poor prognosis in patients treated in the MRC ALL 97/99 trial (5-year EFS, 29%).[ ] In their subsequent trial ( ), patients

2018 PDQ - NCI's Comprehensive Cancer Database

23. Developmental asynchrony and antagonism of sex determination pathways in a lizard with temperature-induced sex reversal Full Text available with Trip Pro

of gonad differentiation and genital dimorphism, the females of two (Niveoscincus ocellatus and Barisia imbricata) exhibit a phase of temporary pseudohermaphroditism or TPH (gonads have differentiated well before genital dimorphism). We report a third example of TPH in Pogona vitticeps, an agamid with temperature-induced male to female sex reversal. These findings suggest that for female squamates, genital and gonad development may not be closely synchronised, so that TPH may be common. We further (...) observed a high frequency of ovotestes, a usually rare gonadal phenotype characterised by a mix of male and female structures, exclusively associated with temperature-induced sex reversal. We propose that ovotestes are evidence of a period of antagonism between male and female sex-determining pathways during sex reversal. Female sexual development in squamates is considerably more complex than has been appreciated, providing numerous avenues for future exploration of the genetic and hormonal cues

2018 Scientific reports

24. Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH)

, AST>80IU/L, CR>115μmol/L); The karyotype is 45,X or 47,XXY and 48, XXXY and other abnormal karyotypes; True hermaphroditism and pseudohermaphroditism; Sex hormone abnormalities caused by adrenal lesions; Hypogonadism secondary to other systemic diseases; Abnormal secretion of hormones caused by brain lesions (such as pituitary tumors); There are other hormone abnormalities in the pituitary; There are contraindications for the treatment with hCG or hMG. Contacts and Locations Go to Information from (...) will be reqiured to sign a Data Acces Agreement. Layout table for additional information Studies a U.S. FDA-regulated Drug Product: No Studies a U.S. FDA-regulated Device Product: No Keywords provided by Jihong Liu, Tongji Hospital: Gonadotropin treatment human chorionic gonadotropin human menopausal gonadotropin Additional relevant MeSH terms: Layout table for MeSH terms Infertility Hypogonadism Kallmann Syndrome Genital Diseases, Male Genital Diseases, Female Gonadal Disorders Endocrine System Diseases

2018 Clinical Trials

25. Intersex Studies: A Systematic Review of International Health Literature Full Text available with Trip Pro

, seen as an abuse of the group leading to unwanted outcomes ( ; ). In one example, a pediatrician expressed concern about his and others’ own endorsements of past gonad removals (e.g., removing testes from females) on the basis of potentially imagined cancer and “corrective” clinical concerns, given retained gonads can provide patients with a “natural” form of hormone production ( ). Figure 2. Number of textual sources reporting on particular study method types (n = 61). The second most common (...) variations. The study with no participants with intersex variations modeled measures for the intersex females’ internal genitalia based on another group—only what it termed “healthy females” aged 0 to 40 years ( ). The pieces gave a strong overall message that in the authors’ own views, the medical approaches or hypotheses they had applied had been largely successful overall. A less common method (three sources) included the use of a large-scale survey/questionnaire ( ; ; ). These studies had the most

2018 SAGE open

26. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®): Health Professional Version

tumor is the most frequent tumor of the kidney in infants and children. The incidence of Wilms tumor is 8.2 cases for every 1 million children younger than 15 years, or one case per 10,000 infants.[ ] Approximately 650 cases of Wilms tumor are diagnosed in the United States each year. The incidence is substantially lower in Asians. The male to female ratio in unilateral cases of Wilms tumor is 0.92 to 1.00, but in bilateral cases, it is 0.60 to 1.00. The mean age at diagnosis is 44 months (...) , including SLC1A2 or BDNF .[ ] Germline WT1 point mutations produce genetic syndromes that are characterized by nephropathy, 46XY disorder of sex development, and varying risks of Wilms tumor.[ , ] Denys-Drash and Frasier syndromes. Denys-Drash syndrome is characterized by nephrotic syndrome caused by diffuse mesangial sclerosis, XY pseudohermaphroditism, and increased risk of Wilms tumor (>90%). Frasier syndrome is characterized by progressive nephropathy caused by focal segmental glomerulosclerosis

2017 PDQ - NCI's Comprehensive Cancer Database

27. Childhood Cancer Genomics (PDQ®): Health Professional Version

abnormal chromosome).[ ] It occurs in approximately 2% of B-ALL cases and is associated with older age (median, approximately 10 years), presenting WBC of less than 50 × 10 9 /L, a slight female preponderance, and high end-induction MRD.[ - ] The United Kingdom Acute Lymphoblastic Leukaemia (UKALL) clinical trials group initially reported that the presence of iAMP21 conferred a poor prognosis in patients treated in the MRC ALL 97/99 trial (5-year EFS, 29%).[ ] In their subsequent trial ( ), patients

2016 PDQ - NCI's Comprehensive Cancer Database

28. Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®): Health Professional Version

is the most frequent tumor of the kidney in infants and children. The incidence of Wilms tumor is 8.2 cases for every 1 million children younger than 15 years, or one case per 10,000 infants.[ ] Approximately 650 cases of Wilms tumor are diagnosed in the United States each year. The incidence is substantially lower in Asians. The male to female ratio in unilateral cases of Wilms tumor is 0.92 to 1.00, but in bilateral cases, it is 0.60 to 1.00. The mean age at diagnosis is 44 months in unilateral cases (...) .[ ] Germline WT1 point mutations produce genetic syndromes that are characterized by nephropathy, 46XY disorder of sex development, and varying risks of Wilms tumor.[ , ] Denys-Drash and Frasier syndromes. Denys-Drash syndrome is characterized by nephrotic syndrome caused by diffuse mesangial sclerosis, XY pseudohermaphroditism, and increased risk of Wilms tumor (>90%). Frasier syndrome is characterized by progressive nephropathy caused by focal segmental glomerulosclerosis, gonadoblastoma, and XY

2016 PDQ - NCI's Comprehensive Cancer Database

29. A Case with late onset of ambiguous genitalia Full Text available with Trip Pro

A Case with late onset of ambiguous genitalia Ambiguous genitalia is an uncommon situation that happens between 1 and 2 per every 1000 live births and falls under the umbrella diagnosis of disorders of sexual development.In this article, we report a case of male pseudohermaphroditism with ambiguous genitalia. The proband was a 12 yr old girl without any uterus or ovarian tissues. Karyotype of the case is 46, XY. Genes involved in sexual differentiation such as AR, SRD5A2, LH, LHR, FSH, 17 B HSD

2017 International Journal of Reproductive Biomedicine

30. MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report Full Text available with Trip Pro

MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is referred to as Persistent Mullerian Duct Syndrome (PMDS). A young male patient with bilateral cryptorchidism presented to our hospital who was subsequently imaged. There are many

2017 Journal of clinical and diagnostic research : JCDR

31. Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome Full Text available with Trip Pro

Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient (...) with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil. Pathology revealed bilateral testicles with Sertoli cell tumors. According to the international literature, prophylactic gonadectomy following puberty is recommended due to the progressive risk of neoplastic transformation in the residual gonads.

2017 Case reports in obstetrics and gynecology

32. Is Rectosigmoid Vaginoplasty Still Useful? Full Text available with Trip Pro

the usability of rectosigmoid vaginoplasty over the course of long-term follow-up.From March 1992 to February 2014, 84 patients were treated with rectosigmoid vaginoplasty; 44 had gender identity disorder, 29 had vaginal agenesis, 8 had female pseudohermaphroditism, and 3 had gynecologic malignancies after radical pelvic surgery. This retrospective study was based on a review of the patients' records, clinical examinations, complications, and questionnaires about appearance, function, and sexual

2017 Archives of plastic surgery

33. A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome Full Text available with Trip Pro

A Rare Case Report of Inguinal Hernia with Persistent Mullerian Duct and Klinefelter Syndrome Inguinal hernia in male is a common problem but having female reproductive organs in hernial sac is rare. It occur because of failure of mullerian duct to regress in a male fetus during embryonic development, result in a syndrome known as Persistent Mullerian Duct Syndrome (PMDS), which is a rare entity of male pseudohermaphroditism. We hereby present a case of 21-year-old male patient reported

2016 Journal of clinical and diagnostic research : JCDR

34. The Increasing Prevalence in Intersex Variation from Toxicological Dysregulation in Fetal Reproductive Tissue Differentiation and Development by Endocrine-Disrupting Chemicals Full Text available with Trip Pro

The Increasing Prevalence in Intersex Variation from Toxicological Dysregulation in Fetal Reproductive Tissue Differentiation and Development by Endocrine-Disrupting Chemicals An increasing number of children are born with intersex variation (IV; ambiguous genitalia/hermaphrodite, pseudohermaphroditism, etc.). Evidence shows that endocrine-disrupting chemicals (EDCs) in the environment can cause reproductive variation through dysregulation of normal reproductive tissue differentiation, growth (...) , and maturation if the fetus is exposed to EDCs during critical developmental times in utero. Animal studies support fish and reptile embryos exhibited IV and sex reversal when exposed to EDCs. Occupational studies verified higher prevalence of offspring with IV in chemically exposed workers (male and female). Chemicals associated with endocrine-disrupting ability in humans include organochlorine pesticides, poly-chlorinated biphenyls, bisphenol A, phthalates, dioxins, and furans. Intersex individuals may

2016 Environmental health insights

35. A New Conceptual Approach for Voice Feminization: 12 Years of Experience. (Abstract)

retrospective study was performed on 362 patients who underwent VFSRAC (34 with androphonia, eight with androgenital syndrome, four with aplastic anemia treated with androgens, three with pseudohermaphroditism, and 313 male-to-female [MTF] transsexuals) and phonatory pattern rehabilitation between 2003 and 2014. Subjective and perceptual assessments, aerodynamic and acoustic assessments, and a videostroboscopic assessment were evaluated pre- and postoperatively in the female androphonia group and the MTF (...) A New Conceptual Approach for Voice Feminization: 12 Years of Experience. Voice feminization has been developed with various surgical techniques to increase voice pitch. The purpose of this study was to evaluate 12 years of experience using a new endoscopical surgical technique, vocal fold shortening and retrodisplacement of the anterior commissure (VFSRAC) and retraining the voice pattern performed in female patients with androphonia or male-to-female transsexuals.Retrospective study.A

2016 Laryngoscope

36. Transgender Surgery in Denmark From 1994 to 2015: 20-Year Follow-Up Study. (Abstract)

were excluded from the study if they were pseudohermaphrodites or if their gender was not reported.Gender distribution, age trends, and surgeries performed for Danish patients who underwent gender-confirming surgery.One hundred fifty-eight patients referred for gender-confirming surgery were included. Fifty-five cases (35%) were male-to-female (MtF) and 103 (65%) were female-to-male (FtM). In total, 126 gender-confirming surgeries were performed. For FtM cases, top surgery (mastectomy

2016 Journal Of Sexual Medicine

37. Intra-Abdominal Testicular Seminoma in a Woman with Testicular Feminization Syndrome Full Text available with Trip Pro

Intra-Abdominal Testicular Seminoma in a Woman with Testicular Feminization Syndrome We report a case of intra-abdominal testicular tumor in a 36-year-old married lady presenting with chief complaints of primary amenorrhea. The patient was later diagnosed with testicular feminization syndrome, a form of male pseudohermaphroditism. This testicular tumor was histologically proven as seminoma. Due to rarity, imaging findings in patients with testicular feminization syndrome and intraabdominal

2011 Case Reports in Radiology

38. Laparoscopic inguinal hernia repair in children using the percutaneous internal ring suturing technique – own experience Full Text available with Trip Pro

Laparoscopic inguinal hernia repair in children using the percutaneous internal ring suturing technique – own experience Percutaneous internal ring suturing (PIRS) is a method of laparoscopic herniorrhaphy, i.e. percutaneous closure of the internal inguinal ring under the control of a telescope placed in the umbilicus.To evaluate the usefulness of the PIRS technique.Fifty-five children (39 girls and 16 boys) underwent surgery using this method in our institution between 2008 and 2010.In 10 (...) cases the presence of an open inguinal canal on the opposite side was also noted during surgery, and umbilical hernia was recognized in 2 patients. In 5 cases it was necessary to convert to the open surgery because of the inability to continue the laparoscopic procedure. In 1 case, male pseudohermaphroditism was diagnosed during surgery. Recurrent inguinal hernia required a conventional method of surgery in 1 child. Other children did not exhibit the characteristics of hernia recurrence

2014 Videosurgery and other Miniinvasive Techniques

39. Benign Vulvar Lesions (Treatment)

growths of vestibular mucosa are normal variants of female anatomy. Their origin is unknown. No association with human papillomavirus infection has been detected so far. Congenital malformations Ambiguous external genitalia is a term used to describe situations in which the external genital organs are not clearly female or male at birth. Abnormalities of the external genitalia occur in 1 in 4500 births. [ ] The 3 main etiologic categories include (1) female pseudohermaphroditism, accounting for 80 (...) % of ambiguous genitalia; (2) male pseudohermaphroditism, occurring in approximately 15% of cases; and (3) disorders of differentiation. The preponderance of female pseudohermaphroditism is due to a recessive congenital enzymatic defect of adrenal steroid biosynthesis (most commonly, 21-hydroxylase deficiency), resulting in androgen overproduction that virilizes the external genitalia of a female 46,XX fetus with normal ovaries. Although rare, maternal factors can also virilize a female fetus. In male

2014 eMedicine.com

40. C-17 Hydroxylase Deficiency (Treatment)

are added if hypertension persists. Moderation of dietary sodium intake is recommended. Hormone replacement regimens are best begun early in adolescence to achieve their greatest potential. They allow the development of female secondary sexual characteristics and stimulate the normal increase in bone mass that occurs with puberty. Estrogen replacement is initiated at the time of expected puberty; if that time has passed, the replacement therapy is initiated at the time of diagnosis. Patients who are 46 (...) ,XX require combined estrogen/progestin cyclic or combined therapy to prevent endometrial hyperplasia from unopposed estrogen. Patients who are 46,XY lack müllerian structures and are often treated with estrogen alone if they first come to medical attention during the age of puberty and had hitherto been raised as girls. The decision to instead effect a sex identity change and treat such patients with androgen replacement and extensive genital reconstructive surgery should not be entered

2014 eMedicine.com

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