scholarly journals A Case of True Hermaphroditism Presenting as a Testicular Tumour

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Michelle Ceci ◽  
Edward Calleja ◽  
Edith Said ◽  
Noel Gatt
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Sexual Maturation ◽  
Sexual Differentiation ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Left Testis ◽  
True Hermaphroditism ◽  
Male Phenotype ◽  
Disorders Of Sexual Differentiation

True hermaphroditism represents only 5% cases of all of disorders of sexual differentiation (DSD) and usually present in early childhood with ambiguous genitalia. Occasionally, cases might present later on in adolescence with problems of sexual maturation. Our case report presents a true hermaphrodite with normal male phenotype that presented as a left testicular mass, two years after being diagnosed with Sertoli cell only syndrome in the contralateral testis. Histological examination of the left testis showed ovarian, fallopian tube, myometrial, endometrial, and epididymal tissue. This combination of findings is found in approximately one-third of true hermaphrodites, but it is very rare to present clinically as an inguinoscrotal mass.

45,X/46,XY Mosaicism with Male Phenotype: Case Report

2021 ◽  
pp. 1-4
Author(s):  
Angie Carolina Carreño-Martínez ◽  
Victor Clemente Mendoza Rojas ◽  
Julian Arturo Gil Forero ◽  
Victor Hugo Figueroa ◽  
Gustavo Adolfo Contreras-García
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Aortic Coarctation ◽  
Gonadal Dysgenesis ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Corrective Surgery ◽  
Male Phenotype ◽  
Treatment Alternatives

Mixed gonadal dysgenesis is the most common chromosomal abnormality with ambiguous genitalia, defined as a 45,X/46,XY mosaicism. It can present with a normal male phenotype, ambiguous genitalia, or features of Turner syndrome. A 14-year-old patient was referred to the genetics clinic due to hypospadia, cryptorchidism, and aortic coarctation. During the physical examination, short stature, webbed neck, and Blashko lines on his back were noted. He had a previous karyotype reported as normal. However, due to an inadequate evolution and a low resolution on the previous test, a higher resolution karyotype was performed, identifying a mosaicism 45,X/46,XY. A multidisciplinary board examined the case, and follow-up with tumor markers was carried out to evaluate the presence of gonadoblastoma, one of the main complications in these patients. Treatment should be transdisciplinary and focused on the particular characteristics of each case. Other treatment alternatives include corrective surgery and hormonal therapy.

scholarly journals Embryology and adult urology – Not always mutually exclusive: A case report on true hermaphroditism at an adult urology clinic

2014 ◽  
Vol 8 (9-10) ◽  
pp. 650
Author(s):  
Rafal Turo ◽  
Laura F Derbyshire ◽  
Michal Smolski ◽  
Gerald N Collins ◽  
Niall Lynch ◽  
...  
Keyword(s):  
Case Report ◽  
Sexual Differentiation ◽  
Clinical Relevance ◽  
Rare Case ◽  
True Hermaphroditism ◽  
True Hermaphrodite ◽  
Disorders Of Sexual Differentiation ◽  
Urology Clinic

True hermaphrodite (TH) is one of the rarest varieties of disorders of sexual differentiation. Most patients present early in the life and are managed by pediatricians. We present a rare case of an adult TH which was first diagnosed by a urologist. We discuss the pathology of TH and its clinical relevance. Knowledge and awareness of embryology are vital to all specialties.

scholarly journals Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation

Medicina ◽  
2009 ◽  
Vol 45 (5) ◽  
pp. 357
Author(s):  
Gilvydas Verkauskas ◽  
Diana Mačianskytė ◽  
Dainius Jančiauskas ◽  
Romualdas Preikša ◽  
Rasa Verkauskienė ◽  
...  
Keyword(s):  
Sexual Differentiation ◽  
Gonadal Dysgenesis ◽  
Ambiguous Genitalia ◽  
Urogenital Sinus ◽  
Gender Assignment ◽  
Primordial Follicles ◽  
Mixed Gonadal Dysgenesis ◽  
Disorders Of Sexual Differentiation ◽  
Operative Findings ◽  
Gonadal Biopsy

Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis. Material and methods. A retrospective study of five cases treated from 2003 to 2006 was performed. Clinical picture, operative findings, testosterone levels, and immunohistochemistry of gonads for the expression of FOXL2, SOX9, AMH, AMHr, C-kit, and PLAP were analyzed. Results. All patients had ambiguous genitalia, urogenital sinus, uterus, testicle on one side, and a streak gonad on the other. Four patients were reared as male and one as female. Stimulation by human chorionic gonadotropin showed good penile size and testosterone response. All patients underwent laparoscopic gonadal biopsy and/or gonadectomy. Histological studies showed the presence of sparse primordial follicles surrounded by embryonic sex cords in the streak portion of gonads. Germ cells were C-kit positive in all and PLAP positive in four patients. FOXL2 expression was detected in four streak gonads and in none of testes. AMH expression was found only in testes. SOX9 expression was found in both investigated testes and in three out of four streak gonads investigated. Conclusions. 46,XY mixed gonadal dysgenesis should be differentiated from ovotesticular and other types of 46,XY disorders of sexual differentiation by the typical gonadal histology and internal genital structure. High testosterone level after stimulation and good response to testosterone treatment in 46,XY mixed gonadal dysgenesis could orient toward male sex assignment. There are different patterns of gene expression in testicular and streak gonads with a switch to FOXL2 positivity in streak gonads. Early gonadal and genital surgery is recommended.

scholarly journals 46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

2010 ◽  
Vol 54 (8) ◽  
pp. 685-689 ◽  
Author(s):  
Cresio Alves ◽  
Zilda Braid ◽  
Fernanda Borchers Coeli ◽  
Maricilda Palandi de Mello
Keyword(s):  
Sexual Differentiation ◽  
Leydig Cells ◽  
Rare Condition ◽  
Ambiguous Genitalia ◽  
Seminiferous Tubules ◽  
Normal Male ◽  
Clinical Presentations ◽  
Cytogenetic Studies ◽  
Gonadal Biopsy ◽  
Xx Male

The XX male syndrome - Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene.

scholarly journals A Young Male with Female Reproductive System

1970 ◽  
Vol 11 (1) ◽  
pp. 63-66
Author(s):  
Md Robed Amin ◽  
Amit Das ◽  
Md Murad Hossain ◽  
Md Ferdous Zaman ◽  
Ahmedul Kabir ◽  
...  
Keyword(s):  
Sexual Development ◽  
Reproductive System ◽  
Sexual Differentiation ◽  
Sex Differentiation ◽  
Young Male ◽  
Female Reproductive System ◽  
Disorders Of Sexual Development ◽  
Sex Development ◽  
Male Phenotype ◽  
Disorders Of Sexual Differentiation

Patients with disorders of sexual differentiation possess discordance among sex chromosomes, gonads, sex hormones, and phenotypic sex. The most common of the phenotypic sex disorder is due to defect in enzyme for synthesis of steroids in adrenal cortex. A spectrum of phenotypes is observed in these cases. Here we present a case with features of female reproductive system in his body with male phenotype. As there was no trace of male sexual organs in all investigations but physical habitus was exclusively male with abundance of hair distribution the case was diagnosed as disorder of sex development (DSD) - female pseodoharmaphroditism. Keywords: Sex Differentiation Disorder, Disorders of Sexual Development, Pseudohermaphroditism DOI:10.3329/jom.v11i1.4276 J Medicine 2010: 11: 63-66

Sertoli cell only syndrome with ambiguous genitalia

2016 ◽  
Vol 29 (7) ◽  
Author(s):  
Fatih Gurbuz ◽  
Serdar Ceylaner ◽  
Seyda Erdogan ◽  
Ali Kemal Topaloglu ◽  
Bilgin Yuksel
Keyword(s):  
Sertoli Cell ◽  
Germ Cells ◽  
Leydig Cells ◽  
Genetic Disorder ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Rare Genetic Disorder ◽  
Male Phenotype ◽  
Variable Phenotype

AbstractThe Sertoli cell only syndrome (SCOS) is a rare genetic disorder with a variable phenotype ranging from a severe ambiguous genitalia to a normal male phenotype with infertility. SCOS is diagnosed on testicular histopathology as germ cells are absent without histological impairment of Sertoli or Leydig cells. The

Neonatal Serum Electrolyte and Proteinuria Screening on 46,XY Ambiguous Genitalia Patients May Allow Early Diagnosis of Denys-Drash Syndrome: A Case Report

Urology ◽  
2020 ◽  
Author(s):  
Angelena Edwards ◽  
Niccolo M. Passoni ◽  
Rebecca Collins ◽  
Smitha Vidi ◽  
Jyothsna Gattineni ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
Ambiguous Genitalia ◽  
Serum Electrolyte ◽  
Drash Syndrome

46,XX/47,XXY mosaic form of klinfelter syndrome with ambiguous genitalia: a case report

2014 ◽  
Author(s):  
Fadila Chabour ◽  
Said Azzoug ◽  
Leila Rabehi ◽  
Farida Chentli
Keyword(s):  
Case Report ◽  
Ambiguous Genitalia ◽  
Mosaic Form
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