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 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 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.

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

Reducing endogenous estrogen during development alters hormone production by porcine Leydig cells and seminiferous tubules

2008 ◽  
Vol 34 (1) ◽  
pp. 100-108 ◽  
Author(s):  
Eeman E. At-Taras ◽  
In Cheul Kim ◽  
Trish Berger ◽  
Alan Conley ◽  
Janet F. Roser
Keyword(s):  
Leydig Cells ◽  
Seminiferous Tubules ◽  
Hormone Production ◽  
Endogenous Estrogen

Implications of body condition and seasonality on morphological and functional parameters of testes of Myotis nigricans (Chiroptera: Vespertilionidae)

2018 ◽  
Vol 30 (7) ◽  
pp. 1029
Author(s):  
Marcelo Ferreira ◽  
Aline Soldati ◽  
Sirlene S. S. Rodrigues ◽  
Laércio dos Anjos Benjamin
Keyword(s):  
Light Microscopy ◽  
Body Condition ◽  
Environmental Variables ◽  
Reproductive Strategies ◽  
Leydig Cells ◽  
Dry Season ◽  
The Body ◽  
Reproductive Capacity ◽  
Seminiferous Tubules ◽  
The Mean

The insectivorous bat Myotis nigricans is widely distributed throughout the Neotropics, including Brazil, and has a reproductive biology that is affected by climate and food availability. To evaluate the reproductive capacity of this species, morphofunctional parameters of the testes were correlated with environmental variables and the body condition of individuals captured. After bats had been killed, their testes were removed, fixed in Karnovsky’s fluid for 24 h and embedded in resin for evaluation by light microscopy. The mean annual tubulosomatic index (0.58%) and the percentage of seminiferous tubules in the testes (88.96%) were the highest ever recorded for the Order Chiroptera. The percentage of Leydig cells and volume of the cytoplasm of Leydig cells were higher in the rainy than dry season (80.62 ± 3.19% and 573.57 ± 166.95 μm, respectively; mean ± s.d.). Conversely, the percentage of nuclei of the Leydig cells in the dry season (26.17 ± 3.70%; mean ± s.d.) and the total number of Leydig cells (6.38 ± 1.84 × 109; mean ± s.d.) were higher in the dry season. The results of the present study could help in future conservation of these bats because they provide a better understanding of the bats’ reproductive strategies and how the species can adapt to changes.

Sex chimaerism, fertility and sex determination in the mouse

Development ◽  
1991 ◽  
Vol 113 (1) ◽  
pp. 311-325 ◽  
Author(s):  
C.E. Patek ◽  
J.B. Kerr ◽  
R.G. Gosden ◽  
K.W. Jones ◽  
K. Hardy ◽  
...  
Keyword(s):  
Sex Determination ◽  
Sertoli Cells ◽  
Leydig Cells ◽  
Sex Chromosome ◽  
Tunica Albuginea ◽  
In Situ Hybridisation ◽  
Ovarian Surface Epithelium ◽  
Surface Epithelium ◽  
Seminiferous Tubules ◽  
Coelomic Epithelium

Adult intraspecific mouse chimaeras, derived by introducing male embryonal stem cells into unsexed host blastocysts, were examined to determine whether gonadal sex was correlated with the sex chromosome composition of particular cell lineages. The fertility of XX in equilibrium XY and XY in equilibrium XY male chimaeras was also compared. The distribution of XX and XY cells in 34 XX in equilibrium XY ovaries, testes and ovotestes was determined by in situ hybridisation using a Y-chromosome-specific probe. Both XX and XY cells were found in all gonadal somatic tissues but Sertoli cells were predominantly XY and granulosa cells predominantly XX. The sex chromosome composition of the tunica albuginea and testicular surface epithelium could not, in general, be fully resolved, owing to diminished hybridisation efficiency in these tissues, but the ovarian surface epithelium (which like the testicular surface epithelium derives from the coelomic epithelium) was predominantly XX. These findings show that the claim that Sertoli cells were exclusively XY, on which some previous models of gonadal sex determination were based, was incorrect, and indicate instead that in the mechanism of Sertoli cell determination there is a step in which XX cells can be recruited. However, it remains to be established whether the sex chromosome constitution of the coelomic epithelium lineage plays a causal role in gonadal sex determination. Male chimaeras with XX in equilibrium XY testes were either sterile or less fertile than chimaeras with testes composed entirely of XY cells. This impaired fertility was associated with the loss of XY germ cells in atrophic seminiferous tubules. Since this progressive lesion was correlated with a high proportion of XX Leydig cells, we suggest that XX Leydig cells are functionally defective, and unable to support spermatogenesis.

HYDROXYSTEROID DEHYDROGENASES IN NORMAL AND ABNORMAL HUMAN TESTES

1966 ◽  
Vol 35 (3) ◽  
pp. 239-NP ◽  
Author(s):  
A. H. BAILLIE ◽  
W. S. MACK
Keyword(s):  
Similar Pattern ◽  
Leydig Cells ◽  
Seminiferous Tubules ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Colour Reaction ◽  
Adult Human ◽  
Hydroxysteroid Dehydrogenases

SUMMARY 3α-, 3β-, 11β-, 16β-, 17β- and 20β-hydroxysteroid dehydrogenases have been localized histochemically in the Leydig cells of prepubertal and adult human testes; 3α-, 16β- and 17β-hydroxysteroid dehydrogenases were present in the seminiferous tubules also. A similar pattern was found in cryptorchid testes. In addition 3β-sulphoxy steroids, including DHA sulphate, gave a good colour reaction in human Leydig cells. Testes from oestrogen-treated subjects had no histochemically demonstrable hydroxysteroid dehydrogenases and this applied also to infarcted testes. Testes from a case of Klinefelter's syndrome were found to lack 17β- and 20β-hydroxysteroid dehydrogenases in the Leydig cells. The biochemical significance of these results is discussed.

scholarly journals Rare presentation of Limb Body Wall Complex in a Neonate: Case report and review of literature

2022 ◽  
Author(s):  
Omoloro Adeleke ◽  
Farrukh Gill ◽  
Ramesh Krishnan
Keyword(s):  
Body Wall ◽  
Anorectal Malformations ◽  
Epidemiologic Studies ◽  
Normal Male ◽  
Rare Occurrence ◽  
Pathological Findings ◽  
Review Of Literature ◽  
Rare Presentation ◽  
Case Presentation ◽  
Clinical Presentations

The Limb Body Wall Complex (LBWC) aka. Body Stalk Syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary, anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has fatal prognosis.

scholarly journals Superior Mesenteric Artery Syndrome: A Worldwide Descriptive Study with Literature Review

2016 ◽  
Vol 4 (2) ◽  
pp. 50-54
Author(s):  
Ruhidayati Awaludin ◽  
Hazimah Ab Rahim ◽  
Dg. Syazana Arivai ◽  
Mostafa Refaie Elkeleny
Keyword(s):  
Superior Mesenteric Artery ◽  
Mesenteric Artery ◽  
Rare Condition ◽  
Superior Mesenteric Artery Syndrome ◽  
Time Interval ◽  
Presenting Symptoms ◽  
Clinical Presentations ◽  
Choice Of Treatment ◽  
Long Term Follow Up ◽  
Microsoft Office

Background: Superior mesenteric artery syndrome is best described as compression of the third part of duodenum by the superior mesenteric artery, resulting in obstruction. This rare condition has been studied for decades yet remains obscure. This study aimed to analyze different clinical presentations, diagnostic modalities, treatment approaches and outcomes of this condition. Methods: Thirty-five superior mesenteric artery syndrome cases were collected retrospectively from a Facebook group called “Superior Mesenteric Artery Syndrome Awareness & Support”. A questionnaire was designed using Google Forms to obtain the demographics, presenting symptoms, risk factors and co-morbidities, investigations, means of treatment and the outcomes. Data was entered into Microsoft Office Excel for statistical analysis. Results: The median age at diagnosis was 22 years. The median body mass index was 20.8 kg/m2. The median time interval from symptom onset to initial diagnosis was 22 months. The major presenting symptoms were abdominal pain (82.9%), nausea (77.1%), and vomiting (65.7%). Abdominal computed tomography scan with contrast (82.9%) was commonly used for confirmation of diagnosis. Thirteen cases (37.1%) were congenital. Thirty patients (85.7%) had received treatment. The overall management success was only 13.3%. Surgical management (34.3%) was the most commonly used regimen. Conclusion: Diagnosis of superior mesenteric artery syndrome is established after a thorough assessment of the clinical presentations and confirmed with suitable imaging modalities. The choice of treatment should be dependent on the causes and severity as different patients respond differently to therapy. Recurrence is possible in all patients, and a long-term follow up is thus required.

scholarly journals Microscopic Features of Gonadally Inactive Testis of Khaki Campbell Duck (Anas platyrhynchos domesticus) in Bangladesh

2021 ◽  
Vol 9 (1) ◽  
pp. 146-149
Author(s):  
Papia Khatun ◽  
Ziaul Haque ◽  
Shonkor Kumar Das
Keyword(s):  
Leydig Cells ◽  
Anas Platyrhynchos ◽  
Relative Increase ◽  
Seminiferous Tubules ◽  
Interstitial Tissue ◽  
Tissue Samples ◽  
Microscopic Features ◽  
One Year ◽  
Khaki Campbell Ducks ◽  
First Time

The microscopic features of the testis were studied in gonadally inactive Khaki Campbell duck (Anas platyrhynchos domesticus) in Bangladesh. The study was conducted in the Department of Anatomy & Histology, Bangladesh Agricultural University, Mymensingh. Five adult healthy birds of one-year-old were used for this study. The testes were collected immediately after ethical killing of the birds for histological observations. The collected tissue samples were then processed and stained with Hematoxylene & Eosin (H & E) stain for histological observations. The seminiferous tubules showed considerable involution with cessation of spermatogenesis. The basal lamina of the seminiferous tubules was irregular in outline and was invaginated into the germinal epithelium in the form of finger-like plicae or folds. Most of the lumen of the seminiferous tubules was empty and all generation of germ cells were not present in most of the seminifeous tubules. The interstitium showed a relative increase in volume and interstitial tissue consisted of loose connective tissue, interstitial cells (Leydig cells), few connective cells and blood vessels. This study first time described the microscopic features of testis of Khaki Campbell ducks in Bangladesh during inactive phases of the reproductive cycle.

Sign in / Sign up

Export Citation Format

Share Document