Pseudohermaphroditism Research Articles

Persistent Mullerian Duct Syndrome: A Single-Center Experience.

Context:Persistent Mullerian duct syndrome (PMDS) is a rare disorder. It is a type of male pseudohermaphroditism, usually presenting as “Hernia Uteri Inguinalis”.Aims:This study aims to present our experience of PMDS, over a 7-year period.Settings and Design:Our center is a tertiary care facility, situated in Tamil Nadu, a southern state of India.Subjects and Methods:This is a retrospective study. The study period was from 2007 to 2015. Seven cases presented during that period. The difficulties in diagnosis, treatment options discussed, along with a review of literature are presented.Results:Seven cases of PMDS presented over 8 years. Only four were diagnosed preoperatively. Mullerian remnants were excised in five cases.Conclusions:PMDS is rare. Orchiopexy should be the goal of treatment.

Persistent Müllerian duct syndrome: A case report and review.

Persistent Müllerian duct syndrome (PMDS) is a rare type of male pseudohermaphroditism caused by a deficiency in anti-Müllerian hormone (AMH) or a defect in its type II receptor. The current study reports the clinical data and results of the genetic analysis of a 17-month-old male diagnosed with PMDS. The clinical manifestations of the patient included a left transverse testicular ectopia and bilateral cryptorchidism. Pelvic ultrasonography indicated two testes on the same left inguinal ring and left inguinal hernia and uterine tissue located at the left rear of the bladder. Karyotype analysis detected a 46,XY chromosome pattern and tests determined that the level of AMH was increased. Gene sequencing of AMHR-II indicated a compound heterozygous nucleotide variation and identified two novel mutations. The c.1184 (E9) to c.1185 (E9) CT deletion mutant gene originated from the father of the patient. This mutation causes a frameshift resulting in a truncated protein. The c.1388G>A (E10) mutant site was derived from the patient's mother and caused a change in p.463, R>H, resulting in the alteration of the structure of the protein, which subsequently induced a conformational change in AMHR-II. The results of the current study may help to further understanding of the PMDS genetic profile.

Testicular Microlithiasis: Case Report and Literature Review

Summary Testicular microlithiasis is a condition characterized by the ultrasonographic findings with multiple microliths, with the prevalence of 0.6% to 9%. This is a condition of unknown etiology; however, in many cases it may be associated with cryptorchidism, Klinefelter syndrome, Down syndrome, varicocele, testicular torsion and male pseudohermaphroditism. Many retrospective studies point to the association between testicular microlithiasis and testicular cancer. We report a case of a 50-year-old patient who presented to the urologist because of dysuric symptoms. Ultrasonographic examination of both testicles revealed microcalcifications in large numbers, i.e. “the phenomenon of the starry sky”. More than 20 microcalcifications were present on the cross section of both testicles. Standard laboratory blood tests were normal. Prostate-specific antigen was 1.22 ng/ml. If risk factors for developing cancer are present, some authors recommend a biopsy of the testicles. However, based on the literature review, currently, there is no a strictly defined protocol.

Seminoma and sertolioma in a male pseudohermaphrodite dog with unilateral cryptorchidism: short communication

A male miniature Schnauzer with cryptorchidism and a mass growth in the right inguinal canal was admitted to the clinical center of a veterinary hospital. During surgical resection of the mass, tubular formations were found, connecting the mass to the left testicle. Histopathology revealed that the tubular formations were uterine tubes and the mass was a seminoma associated with a sertolioma of the right testicle. Further analysis also showed atrophy of the left testicle. Cytogenetic evaluation revealed normal chromosomes of male gender, 78, XY, which led to the conclusion that this was a male pseudohermaphrodite.

Seminoma and sertolioma in a male pseudohermaphrodite dog with unilateral cryptorchidism: short communication

A male miniature Schnauzer with cryptorchidism and a mass growth in the right inguinal canal was admitted to the clinical center of a veterinary hospital. During surgical resection of the mass, tubular formations were found, connecting the mass to the left testicle. Histopathology revealed that the tubular formations were uterine tubes and the mass was a seminoma associated with a sertolioma of the right testicle. Further analysis also showed atrophy of the left testicle. Cytogenetic evaluation revealed normal chromosomes of male gender, 78, XY, which led to the conclusion that this was a male pseudohermaphrodite.

Pseudo-hermafroditismo masculino em um equino

Background: Intersexuality is considered an alteration in the animal development that opposes the characteristics determined by the genetic sex, resulting in an individual with characteristic features of both sexes. The objective of this work is to report a case of male pseudohermaphroditism of a Criollo breed horse referred to the Hospital de Clínicas Veterinárias (HCV) of the Universidade Federal de Pelotas, RS, Brazil. We gather information on the intersexuality diagnostics highlighting cytogenetics as an additional tool to diagnosis.Case: A Criollo breed horse was attended at the HCV with the main complaint of morphological anomaly of the external genitalia. The animal presented female external features, characterized by mammal glands and female genitalia. The horse also showed a rudimentary penis-like structure, caudally oriented shrouded by a cutaneous crease similar to a vulva and presented male behavior. The external genitalia was examined but the vaginoscope could not be inserted since the crease ended in a sac, with no openings. Rectal palpation and transrectal ultrasound could not reveal the presence of female gonads. Urethral ultrasound revealed the pelvic urethra and the openings of the male accessory glands. The equine was subjected to hormonal challenge with human chorionic gonadotropin (hCG). First sample presented a testosterone concentration of 20 ng/dL; second sample, on the other hand, presented a testosterone concentration of 60 ng/dL after the stimulus. The Polimerase Chain Reaction technique revealed absence of gene SRY (sex determiningregion Y). The cytogenetic study was conducted with the lymphocytes obtained from peripherical venous blood. From this, we could verify that the patient was genetically male with karyotype 64 XY. Necropsy showed presence of prepuce and rudimentary penis at the anatomical site of the vulva without scrotum. In the pelvic cavity, a structure similar to a uterine body was observed, with the horns ending at the ovaries anatomical sites, where a structure similar to testicles was found with underdeveloped seminiferous tubules lacking production of spermatozoa and rudimentary epididymis with epididymal ducts coated with primitive stereocilia.Discussion: True hermaphroditism is defined by the presence of ovarian and testicular tissues in the same individual, as separate gonads or combined, as ovotestis. On the other hand, the pseudo-hermaphrodite is an individual with only one gonad, and external genitalia and secondary characteristics of the opposite sex. Urethral endoscopy allowed the visualization of the pelvic urethra and the male sexual glands openings. Following stimulation with hCG, testosterone level increased in 40 ng/dL, evidencing the presence of testicular tissue. Sexual differentiation is determined by the presence or absence of the Y chromosome and by the expression of gene SRY. The animal studied here had karyotype 64 XY and lacked gene SRY, characterizing a condition where testicular differentiation occurred in the absence of gene SRY. It is possible to conclude that clinical evaluation, complementary exams and hormonal analysis allowed the identification of intersexuality. However, only molecular, cytogenetic and histological analyses allowed the definitive diagnosis of male pseudohermaphrodite.

Coincidence of Persistent M\xfcllerian duct syndrome and testicular tumors in dogs

BackgroundPersistent Müllerian duct syndrome (PMDS), a rare form of male pseudohermaphroditism in dogs, is an abnormal sexual phenotype in males that is characterized by the existence of a hypoplastic oviduct, uterus, and cranial part of the vagina. Dogs suffering from PMDS are often accompanied by cryptorchidism. To date, it has been mainly found in the Miniature Schnauzer breed.Case presentationIn this report, two cases of PMDS with a malignant testicular tumor originating from cryptorchidism in breeds other than the Miniature Schnauzer breed are described. The patients were a seven-year-old male Maltese dog and a 17-year-old male mixed-breed dog weighing 3.8 kg. They also exhibited an enlarged prostate with or without abscess and an elevated serum estradiol level and were surgically treated to remove the testicular tumor and Müllerian duct derivatives.ConclusionsIt is recommended that PMDS should be differentially diagnosed by ultrasonography and that orchiectomy be performed at an early age in patients suspected to have cryptorchidism to prevent the ectopic testes from becoming tumorous.

Male pseudohermaphroditism with 45,X/46,X,idic(Y) karyotype: a case presenting with dysgenetic testis on one side and almost normally sized testis on the other side

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

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 and SRY genes were sequenced in both directions. No mutations were found in these genes either. It seems advisable to be cautious in similar cases, and revise protocol for tracing the genes involved in the patients.

Surveyor assay to diagnose persistent Müllerian duct syndrome in Miniature Schnauzers.

Persistent Müllerian duct syndrome (PMDS) is a pseudohermaphroditism in males characterized by the presence of Müllerian duct derivatives. As PMDS dogs often lack clinical symptoms, a molecular diagnosis is essential to identify the syndrome in these animals. In this study, a new molecular method using DNA mismatch-specific Surveyor nuclease was developed. The Surveyor nuclease assay identified the AMHR2 mutation that produced PMDS in a Miniature Schnauzer as accurately as that obtained by using the conventional method based on restriction digestion. As an alternative to the current molecular diagnostic method, the new method may result in increased accuracy when detecting PMDS.

Male Pseudohermaphroditism in a Bitch: A Case Report

Male Pseudohermaphroditism in a Bitch: A Case Report

Male Pseudohermaphroditism Due To 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency in Saudi Arabia

Ponte Academic JournalDec 2017, Volume 73, Issue 12 Male Pseudohermaphroditism Due To 17-Beta-Hydroxysteroid Dehydrogenase III Deficiency in Saudi ArabiaAuthor(s): Nasir Aljurayyan ,Mossa N. almotawa, Amal AlhakamiJ. Ponte - Dec 2017 - Volume 73 - Issue 12 doi: 10.21506/j.ponte.2017.12.55 Abstract:17-beta-hydroxysteroid dehydrogenase isozyme 3 (17?-HSD III) deficiency is a rare disorder leading to male hermaphroditism (MPH), a condition characterized by incomplete differentiation of the male genetalia in 46xy male. The 17?-HSD III enzyme catalyzes the conversion of androstenedione to testosterone in the testis. We present two male patients with male pseudohermaphroditism due to (17?-HSD III) deficiency to highlight the problem, which is not that rare in our community. Download full text:Check if you have access through your login credentials or your institution Username Password

Disorders of Sexual Differentiation: A study on the Incidence and Types of Female Pseudo Hermaphrodites

Disorders of Sexual Differentiation: A study on the Incidence and Types of Female Pseudo Hermaphrodites

Male pseudohermaphroditism due to 5-alpha reductase type-2 deficiency in a 20-month old boy

5-alpha-reductase (5-ARD) type 2 deficiencyis an autosomal sex-linked disorder, resulting inthe inability to convert testosterone to the morephysiological active dihydrotestosterone (DHT).DHT is the most potent androgen, bound selec-tively to the androgen receptors in genital skin andfibroblasts, making its action necessary for the de-velopment of normal male genital anatomy. SinceDHT is required for normal masculinizaton of theexternal genitalia in utero, genetic males with 5-ARD are usually born with ambiguous genitalia(male pseudohermaphroditism). The hallmarkof 5-ARD is elevated ratio of serum testosteroneto DHT. In healthy prepubertal children, thebaseline testosterone-to-DHT ratio is 1:2. Thispaper reports a 20-month old patient with malepseudohermaphroditism due to 5-alpha reductasetype-2 deficiency.

5-alpha-reductase deficiency: a case report

The condition of 5-alpha-reductase type 2deficiency (5-ARD) is an inherited disorderresulting in the inability to converttestosterone to dihydrotestosterone(DHT).This disorder was previously termed asfamilial incomplete male pseudohermaphroditism type2, pseudovaginal perineoscrotal hypospadias.Clinical manifestation of 5-ARD is limited to malegenetic. The affected males are usually identifiedas female in childhood but undergo striking virilizationat puberty.While overall incidence for various countries arenot established, increased incidence is reported in theDominican Republic, some highland tribes in NewGuinea, Lebanon and Turkey. This was the firstdocumented case in Cipto Mangunkusumo (CM)Hospital.

Complete Androgen Insensitivity Syndrome (Testicular Feminization Syndrome): An Interesting Case of Primary Amenorrhoea with 46XY Karyotype

Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in a phenotypically normal woman with male karyotype (XY). We present a case of a 20 years old patient who had history of primary amenorrhea. The clinical examination shows a female phenotype: the breasts are normally developed, absence of hair in the groins and axillary areas, short blind vagina, absent cervix and uterus. A firm mass measuring 5x3 cms was palpable in the left inguinal region. MRI pelvis revealed a cystic lesion measuring 6.8x5.5 cms on the right side. Histopathological examination revealed that both the masses were composed of testicular tissue with absence of ovarian component. The testes were removed to avoid the risk of malignancy. The patient was counseled and discharged with lifelong hormone replacement therapy.

A case with secondary amenorrhoea with hyperandrogenism

We presented a case with complete androgen insensitivity syndrome. The patient had secondary amenorrhea. Physical examination found ambiguous external genitalia, bilateral gynecomastia, no axillary hair or pubic hair. Lab workup found hyperandrogenism and 46XY karyotype. Ultrasound failed to find uterus but hypoecho on both sides of pelvic cavity. A homozygous missense mutation of T572C in exon 2 of androgen receptor gene was identified in this patient. (Chin J Endocrinol Metab, 2016, 32: 781-783) Key words: Androgen insensitivity syndrome; Male pseudohermaphroditism; Androgen receptor gene mutation

Male pseudohermaphroditism and gene mutation analysis: one case report

The clinical and genetic characteristics of a patient with male pseudohermaphroditism, being considered as an isolated 17, 20-lyase deficiency case, were analyzed. The social gender of the patient aged 30-year-old was female. The patient presented with 46, XY karyotype, unclosed epiphysis, after perineal block resection, hypergonadotropic hypogonadism, while the production of mineralocorticoids and glucocorticoids hormone was intact. A503V heterozygous mutation in exon 13 and a deletion in intron 11 of POR gene were detected. The gene mutations may lead to the occurrence of the isolated 17, 20-lyase deficiency. (Chin J Endocrinol Metab, 2016, 32: 587-589) Key words: Cytochrome P450 oxidoreductase; 17α-hydroxylase; 17, 20-lyase; Gene mutation

Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism

Congenital adrenal hyperplasia (CAH) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. Classic CAH is determined by ambiguous genitalia and increase in amount of 17-Hydroxyprogesterone. Simultaneous occurrence of CAH and vanishing testes is a rare condition. A 22-year-old boy, known case of CAH who was diagnosed as female pseudohermaphroditism due to ambiguous genitalia, was referred to Shahid Sadoughi Hospital, Yazd, Iran with colicky abdominal pain and hematuria. Ultrasonography has been performed and prostate tissue was reported. Karyotyping was done because of uncertainty in primary diagnosis, which revealed 46XY. For finding location of testes, ultrasonography and MRI were done and nothing was found in abdomen, inguinal canal or scrotum. Inhibin B serum level was measured to find out whether testis tissue was present in the body, which was <1 pg/ml and vanishing testis was confirmed. Early diagnosis and treatment are essential to prevent further sequels and karyotyping for all patients with CAH is recommended. Lifelong treatment with synthetic glucocorticoid replacement is necessary.

Clinical characteristics and genetic analysis in two patients with 3β-hydroxysteroid dehydrogenase deficiency

Objective To analyze the clinical characteristics of two patients with 3β-hydroxysteroid dehydrogenase deficiency and to explore their molecular genetic defects. Methods The clinical features and laboratory data of two patients were collected. The exons of HSD3B2 gene were amplified by PCR and sequenced by Sanger sequencing. Results Patient 1, aged 5 yrs old, was raised as a girl with 46, XY karyotype, presented with hyperpigmentation, female infant vulva, clitoral hypertrophy, and bilateral cryptorchidism; Patient 2, aged 11 yrs old, was raised as a girl at birth but as a boy after 1 yr old for known 46, XY karyotype, presented with hyperpigmentation, micropenis and severe hypospadias. Both patients had markedly elevated adrenocorticotropin and decreased cortisol. Two homozygous missense mutations in HSD3B2 gene were identified: conversions of codon Pro155 to Leu(p.P155L) in patient 1, and codon Ala82 to Thr(p.A82T) in patient 2, both of which were reported for the first time in China. Conclusion The patients with 3β-hydroxysteroid dehydrogenase deficiency in 46, XY karyotype mainly present with male pseudohermaphroditism and adrenocortical deficiency, and the diagnosis should rely on the steroids detection and HSD3B2 gene screening. (Chin J Endocrinol Metab, 2016, 32: 98-102) Key words: 3β-hydroxysteroid dehydrogenase deficiency; Congenital adrenal hyperplasia; Male pseudohermaphroditism; HSD3B2 gene