Female Pseudohermaphroditism

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 (UK)–ALL 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 with iAMP21 were assigned to a more intensive chemotherapy regimen and had a markedly better

The incidence of Wilms tumor is 7.1 cases per 1 million children younger than 15 years. 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 and 31 months in bilateral cases of Wilms tumor.[ , ] About 10% of children with Wilms tumor have an associated (...) 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 pseudohermaphroditism. WT1

: infantile iatrogenic Cushing syndrome. BMJ Case Reports. 2015;2015. Kumar N, Gilbert L, Ellis T, Krishnan S. Consequences of delivery at home in a woman without prenatal care. BMJ Case Reports. 2017;2017. Prakash G, Singh M, Goel A, Jhanwar A. Female hypospadias presenting with urinary retention and renal failure in an adolescent: uncommon and late presentation with significant hidden morbidity. BMJ Case Reports. 2016;2016. D’Cunha AR, Kurian JJ, Jacob TJK. Idiopathic female pseudohermaphroditism (...) What does it mean to celebrate International Women’s Day in health and medicine? What does it mean to celebrate International Women’s Day in health and medicine? | BMJ Case Reports blog by By Manasi Jiwrajka We look back at some of our case reports: Gender remains an important determinant of health. For example, in , we read that female gender ensured a lifestyle that exposed the patient to HIV. 1 “The patient never attended school. At menstruation, she awoke to a startling reality as she had

, 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

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

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 (UK)–ALL 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 with iAMP21 were assigned to a more intensive chemotherapy regimen and had a markedly better

The incidence of Wilms tumor is 7.1 cases per 1 million children younger than 15 years. 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 and 31 months in bilateral cases of Wilms tumor.[ , ] About 10% of children with Wilms tumor have an associated (...) 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 pseudohermaphroditism. WT1

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.

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

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

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

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

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

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

Penislike clitorises with megalourethras in nonvirilized female fetuses and a newborn. A histopathologic study and its bearing on their pathogenesis. The aim of the study was to analyze the microstructure of penislike clitorises in female pseudohermaphroditism in relation to their pathogenesis.Penislike clitorises from 2 fetuses and 1 newborn with anorectal malformations and multiple other caudal anomalies and 1 fetus with phallic urethra duplication were histologically examined in toto.The (...) in the fourth specimen.Penislike clitorises in female pseudohermaphroditism show a fundamental dysgenesis of major structural elements. The pattern favors the hypothesis of an early error in the formation of the cloacal membrane and adjacent cloaca in embryos between 26 and 29 days postovulation that may lead to dysregulation of molecular developmental interactions during the following formation of the genital tubercle.

. Lancet Oncol 8 (8): 730-7, 2007. Ahmed HU, Arya M, Levitt G, et al.: Part II: Treatment of primary malignant non-Wilms' renal tumours in children. Lancet Oncol 8 (9): 842-8, 2007. Wilms Tumor Incidence of Wilms Tumor The incidence of Wilms tumor is 7.1 cases per 1 million children younger than 15 years. 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 (...) 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 pseudohermaphroditism. WT1 mutations in Denys-Drash syndrome are most often missense mutations in exons 8 and 9, which code for the DNA binding region of WT1 .[ ] By contrast, WT1 mutations in Frasier syndrome typically occur in intron 9 at the KTS

in a 46,XX/46,XY mosaic female with family history of breast cancer. Pathol Int . 1997 Feb-Mar. 47(2-3):147-54. . Chaudhury P, Majmudar B, Moller KA. Invasive squamous cell carcinoma of the vagina in the setting of true hermaphroditism. Gynecol Oncol . 2006 Jan. 100(1):210-2. . Selver Eklioglu B, Atabek ME, Akyurek N, Ari Yuca S, Piskin M. The 46XX Ovotesticular Disorders of Sexual Development with Dismorphic Features. J Pediatr Adolesc Gynecol . 2015 Dec. 28 (6):e157-9. . Ouhilal S, Turco J, Nangia (...) and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine (Baltimore) . 1991 Nov. 70(6):375-83. . Bernard-Gallon DJ, Dechelotte P, Vissac C, et al. BRCA1 and BRCA2 protein expressions in an ovotestis of a 46, XX true hermaphrodite. Breast Cancer Res . 2001. 3(1):61-5. . Burgner DP, Kinmond S, Wallace AM, et al. Male pseudohermaphroditism secondary to panhypopituitarism. Arch Dis Child . - Kinmond S. 75(2):153-5. . Damario MA, Rock JA. Diagnostic

, but complications such as torsion and rupture may increase the incidence of spontaneous abortion or preterm delivery. Race To date, no racial predilection exists for ovarian germ cell tumors (GCTs). Sex These tumors mostly occur in women, although the disease also occurs in pseudohermaphrodites and patients with gonadal dysgenesis (see Complications). Testicular seminomas are the male histologic counterparts to dysgerminomas. Age Although most ovarian cancers occur during the menopausal and perimenopausal years (...) MJ. Anticancer drugs. Lippincott's Illustrated Reviews: Pharmacology . Baltimore, Md: Lippincott Williams & Wilkins; 1992. 337-360. Kumar, V Abbas AK, Fausto N, Aster J, eds. Female genital tract. Robbins Pathologic Basis of Disease . 8th ed. Elsevier Health Sciences; 2009. Matei DE, Russell AH, Horowitz CJ. Ovarian Germ Gell Tumors. Hoskins WJ, Perez CA, Young RC, Barakat RR, Markman M, Randall ME, eds. Principles and Practice of Gynecologic Oncology . 4th ed. Philadelphia, Pa: Lippincott

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