scholarly journals An Unusual Case of Testicular Disorder in Sex Development of Arabian Mare (64,XX SRY-Negative)

Animals ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 1963
Author(s):  
Vincenzo Peretti ◽  
Katiuska Satué ◽  
Francesca Ciotola ◽  
Santo Cristarella ◽  
Massimo De Majo ◽  
...  
Keyword(s):  
Pcr Amplification ◽  
Normal Female ◽  
Sex Development ◽  
First Case ◽  
Blind Ending ◽  
Internal Genitalia ◽  
Mullerian Ducts ◽  
Medical Examinations ◽  
Reproductive Apparatus ◽  
Zfy Genes

A 3-year-old Arabian mare underwent medical examinations due to the presence of abnormalities of the reproductive apparatus and stallion behavior (nervous temperament, aggressiveness, masculine attitude). During the clinical visit, an anovulvar distance shorter than normal was observed; moreover, vulvar lips were dorsally fused except for the lower neckline, showing a blind ending from which a penis-like structure protruded. The ultrasound examination revealed the presence of a cervix and corpus of a uterus, hypoplastic uterine horns, and small gonads with an echogenicity similar to a testis. Blood testosterone levels ranged from 0.4 to 0.6 ng/mL. Cytogenetic analysis showed a normal female karyotype (2n = 64,XX), while PCR amplification of SRY and ZFY genes revealed the absence of a Y chromosome. At necroscopic examination, internal genitalia arising from the genital ridge in the form of masculine type structures were found, while those deriving from the Mullerian ducts were of feminine type. In addition, an infundibular portion of the salpinx at the cranial pole of the gonads was found. This is the first case in equine species of DSD 2n = 64,XX SRY-negative, with the simultaneous presence of male (hypoplastic testicles, epididymal portions, and a penis-like structure) and female (cervix, horn and body of a hypoplastic uterus) genital structures.

Cytogenetics and sex determination in man and mammals

1970 ◽  
Vol 2 (S2) ◽  
pp. 7-30 ◽  
Author(s):  
C. E. Ford
Keyword(s):  
Y Chromosome ◽  
External Genitalia ◽  
Mutant Gene ◽  
Normal Female ◽  
Human Female ◽  
Present Evidence ◽  
Male Development ◽  
Sex Development ◽  
Internal Genitalia ◽  
Male External Genitalia

SummarySex in man and probably throughout the class mammalia is normally determined by the presence of a Y chromosome (male) or its absence (female). The presence of genetic loci on both the long and the short arm of the X chromosome in double dose appears to be essential for the development of mature functional ovaries in the human female though a single X suffices in the female mouse.The development of masculine genital anatomy and phenotype is a consequence of prior formation of testes. In the absence of gonads of either kind, female internal and external genitalia are formed but secondary sex development fails. In rare human families a mutant gene suppresses the development of male external genitalia in 46, XY embryos but permits the development of testes and male internal genitalia. The external phenotype is normal female (syndrome of testicular feminization). A sex-linked mutant gene in the mouse has a similar effect.The locus or loci directly concerned with male development might lie wholly on the Y chromosome or might be located on another chromosome or chromosomes. In the latter case it (or they) must be repressed in the female and normally activated by a locus or loci on the Y chromosome in the male. Present evidence does not permit the exclusion of either possibility.

scholarly journals A high incidence of leukocyte chimerism (60,XX/60,XY) in single born heifers culled due to underdevelopment of internal reproductive tracts 

2014 ◽  
Vol 59 (No. 10) ◽  
pp. 445-449 ◽  
Author(s):  
I. Szczerbal ◽  
B. Kociucka ◽  
J. Nowacka-Woszuk ◽  
Z. Lach ◽  
J.M. Jaskowski ◽  
...  
Keyword(s):  
Molecular Techniques ◽  
Abnormal Development ◽  
Normal Female ◽  
Upward Trend ◽  
Cattle Breeding ◽  
Sex Development ◽  
High Incidence ◽  
Dairy Cattle Breeding ◽  
Internal Genitalia ◽  
Primary Disorder

Freemartinism, a primary disorder of sex development (DSD) in cattle, is associated with leukocyte chimerism (60,XX/60,XY). The diagnosis of DSD is easy if it is known that a heifer with abnormally developed reproductive tracts originates from a heterosexual twin birth, but it is not so obvious in the case of single born calves. In the present study twelve DSD heifers which were single born (singletons) and culled due to the abnormal development of internal genitalia were studied using cytogenetic and molecular techniques. Among the heifers 7 appeared to be chimeric (60,XX/60,XY and the presence of the genes residing in the Y chromosome: SRY and AMELY) and 5 had a normal female karyotype (60,XX and a lack of the Y-linked genes). In addition, milk productivity was analyzed in relation to the incidence of twinning at a local Dairy Cattle Breeding Centre, from which 8 studied singletons (6 chimeric and 2 with a normal female karyotype) originated. It was found that in the years 2005–2013 an upward trend for average milk yield (from 9700 kg in 2005 to 11 500 kg in 2013) was associated with the increase of twin births (from 1.5% in 2005 to 5.9% in 2013). Our study showed that approximately 60% of single born heifers with abnormally developed internal genitalia were freemartins (a male co-twin died during pregnancy), while DSD etiology of the other cases (60,XX and a lack of the Y-linked genes) remains unknown. It cannot be excluded that some of these heifers represent a testicular/ovotesticular DSD (60,XX and SRY-negative). In conclusion, our study suggests that the occurrence of freemartins and other DSD in single born heifers seems to be an underestimated problem in cattle breeding.

Female Hyperandrogenism in Elite Sports and the Athletic Triad

2021 ◽  
Author(s):  
Angelica Lindén Hirschberg
Keyword(s):  
Female Athletes ◽  
Polycystic Ovary ◽  
Disorders Of Sex Development ◽  
Normal Female ◽  
Menstrual Disorders ◽  
Mineral Density ◽  
Energy Deficiency ◽  
Sex Development ◽  
Endocrine Disturbances ◽  
Increased Risk

AbstractEssential hyperandrogenism seems to be overrepresented in female elite athletes. This applies to mild forms such as polycystic ovary syndrome, as well as rare differences/disorders of sex development (DSD). The reason is likely a selection bias since there is increasing evidence that androgens are beneficial for athletic performance by potent anabolic effects on muscle mass and bone mass, and stimulation of erythropoiesis. XY DSD may cause a greatly increased production of testosterone in the male range, that is, 10 to 20 times higher than the normal female range. The established regulations concerning the eligibility of female athletes with severe hyperandrogenism to compete in the female classification remain controversial. The most common cause of menstrual disorders in female athletes, however, is probably an acquired functional hypothalamic disturbance due to energy deficiency in relation to energy expenditure, which could lead to low bone mineral density and increased risk of injury. This condition is particularly common in endurance and esthetic sports, where a lean body composition is considered an advantage for physical performance. It is important to carefully evaluate endocrine disturbances and menstrual disorders in athletes since the management should be specific according to the underlying cause.

WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease

2021 ◽  
pp. 1-9
Author(s):  
Maria T.M. Ferrari ◽  
Andreia Watanabe ◽  
Thatiane E. da Silva ◽  
Nathalia L. Gomes ◽  
Rafael L. Batista ◽  
...  
Keyword(s):  
Kidney Development ◽  
Wilms Tumor ◽  
Genetic Diagnosis ◽  
Germ Cell Tumors ◽  
Disorders Of Sex Development ◽  
Medical Attention ◽  
Primary Amenorrhea ◽  
Normal Female ◽  
Sex Development ◽  
Pathogenic Variants

Wilms’ tumor suppressor gene 1 (<i>WT1</i>) plays an essential role in urogenital and kidney development. Heterozygous germline pathogenic allelic variants of <i>WT1</i> have been classically associated with Denys–Drash syndrome (DDS) and Frasier syndrome (FS). Usually, exonic pathogenic missense variants in the zinc finger region are the cause of DDS, whereas pathogenic variants affecting the canonic donor lysine-threonine-serine splice site in intron 9 cause FS. Phenotypic overlap between <i>WT1</i> disorders has been frequently observed. New <i>WT1</i> variant-associated phenotypes, such as 46,XX testicular/ovarian-testicular disorders of sex development (DSD) and primary ovarian insufficiency, have been reported. In this report, we describe the phenotypes and genotypes of 7 Brazilian patients with pathogenic <i>WT1</i> variants. The molecular study involved Sanger sequencing and massively parallel targeted sequencing using a DSD-associated gene panel. Six patients (5 with a 46,XY karyotype and 1 with a 46,XX karyotype) were initially evaluated for atypical genitalia, and a 46,XY patient with normal female genitalia sought medical attention for primary amenorrhea. Germ cell tumors were identified in 2 patients, both with variants affecting alternative splicing of <i>WT1</i> between exons 9 and 10. Two pathogenic missense <i>WT1</i> variants were identified in two 46,XY individuals with Wilms’ tumors; both patients were &#x3c;1 year of age at the time of diagnosis. A novel <i>WT1</i> variant<i>,</i> c.1453_1456 (p.Arg485Glyfs*14), was identified in a 46,XX patient with testicular DSD. Nephrotic proteinuria was diagnosed in all patients, including 3 who underwent renal transplantation after progressing to end-stage kidney disease. The expanding phenotypic spectrum associated with <i>WT1</i> variants in XY and XX individuals confirms their pivotal role in gonadal and renal development as well as in tumorigenesis, emphasizing the clinical implications of these variants in genetic diagnosis.

scholarly journals First Case Report of Fatal Sepsis Due to Campylobacter upsaliensis

2014 ◽  
Vol 53 (2) ◽  
pp. 713-715 ◽  
Author(s):  
Itaru Nakamura ◽  
Nami Omori ◽  
Ayaka Umeda ◽  
Kiyofumi Ohkusu ◽  
Tetsuya Matsumoto
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Pcr Amplification ◽  
Rrna Gene ◽  
Sequencing Analysis ◽  
Content Type ◽  
First Case ◽  
Campylobacter Upsaliensis ◽  
Fatal Sepsis ◽  
The 16S Rrna Gene

We encountered a rare case of severe fatal infection in a 70-year-old woman due toCampylobacter upsaliensis, identified by PCR amplification and sequencing analysis of the 16S rRNA gene using DNA extracted from the isolates. To our knowledge, fatal sepsis due to this organism has never been described to date.

Persistent paramesonephric ducts (masculine uterus) in the male North American beaver (Castor canadensis)

1998 ◽  
Vol 76 (6) ◽  
pp. 1188-1193 ◽  
Author(s):  
Christien Meier ◽  
Gary D Partlow ◽  
Kenneth R Fisher ◽  
Bryan Rennie
Keyword(s):  
Extracellular Matrix ◽  
North American ◽  
Castor Canadensis ◽  
Geographic Location ◽  
Normal Female ◽  
Mullerian Ducts ◽  
American Beaver

Remnants of the paramesonephric (Müllerian) ducts can be found in the male as a uterus-like structure. Historically, these have been known as a masculine uterus. We examined the reproductive tracts of 24 male North American beaver, Castor canadensis Kuhl, obtained from trappers between 1980 and 1997 from four areas extending across Ontario. Persistent paramesonephric ducts were found in 20 of these tracts. Prevalence was not related to geographic location. Grossly, the remnant appeared as one or two thin, uterus-like tubes medial to the ducti deferentes, with or without a medial corpus lying between the ampullae. Histologically, the paramesonephric remnants resembled a normal female uterus, but the endometrium consisted primarily of amorphous extracellular matrix. Previous descriptions of the prevalence of the paramesonephric duct remnants (male uterus) in C. canadensis were found to be contradictory.

scholarly journals Effects of oestrogen treatment on testicular descent, inguinal closure and prostatic development in a male marsupial, Macropus eugenii

Reproduction ◽  
2002 ◽  
pp. 73-83 ◽  
Author(s):  
D Coveney ◽  
G Shaw ◽  
MB Renfree
Keyword(s):  
Inguinal Canal ◽  
Prostate Gland ◽  
Tammar Wallaby ◽  
Hormonal Control ◽  
Testicular Descent ◽  
Oestrogen Treatment ◽  
Model Animal ◽  
Internal Genitalia ◽  
Mullerian Ducts ◽  
Testicular Migration

This study reports the effect of oestrogen treatment on the development of the genital ducts, prostate gland, testicular descent and inguinal canal closure in male tammar wallaby young treated with oestrogen over four time spans during the first 25 days of pouch life (days 0-10, 10-15, 15-25 and 0-25) and sampled at day 50. In control males, the Mullerian ducts had regressed and the Wolffian ducts had developed into the vas deferens and epididymis. The prostate gland had formed epithelial buds extending from the ventral, lateral and posterior walls of the urethra. The testes were in the neck of the scrotum and the gubernaculum and processus vaginalis were present at the base of the scrotum. In most males treated with oestradiol from day 0 to day 25, the testes had failed to descend by day 50. The gubernaculae were long and thin. The retained Mullerian ducts formed a lateral vaginal expansion like that of normal day 50 females. The Wolffian ducts of the males treated on days 0-25 were regressed, but were present in males in the other three treatment groups. The prostate glands were hyperplastic and epithelial budding was highly invasive. Some treated males from the day 10-25 and 0-25 groups had inguinal hernias. These results demonstrate that oestrogen treatment has profound effects on the development of the internal genitalia of a male marsupial, preventing inguinal closure and interfering with testicular descent. Therefore, the tammar wallaby may provide a useful experimental model animal in which to investigate the hormonal control of testicular migration and closure of the inguinal canal.

scholarly journals Up-to-Date Clinical and Biochemical Workup of the Child and the Adolescent with a Suspected Disorder of Sex Development

2021 ◽  
pp. 279-290 ◽  
Author(s):  
Romina P. Grinspon ◽  
Sebastián Castro ◽  
Rodolfo A. Rey
Keyword(s):  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Diagnostic Approach ◽  
Reproductive Hormone ◽  
Imaging Studies ◽  
Disorder Of Sex Development ◽  
Surgical Exploration ◽  
Sex Development ◽  
Internal Genitalia ◽  
17 Hydroxyprogesterone

Background: The suspicion of a disorder of sex development (DSD) often arises at birth, when the newborn presents with ambiguous genitalia, or even during prenatal ultrasound assessments. Less frequently, the aspect of the external genitalia is typically female or male, and the diagnosis of DSD may be delayed until a karyotype is performed for another health issue, or until pubertal age when a girl presents with absence of thelarche and/or menarche or a boy consults for gynaecomastia and/or small testes. Summary: In this review, we provide a practical, updated approach to clinical and hormonal laboratory workup of the newborn, the child, and the adolescent with a suspected DSD. We focus on how to specifically address the diagnostic approach according to the age and presentation. Key Message: We particularly highlight the importance of a detailed anatomic description of the external and internal genitalia, adequate imaging studies or surgical exploration, the assessment of reproductive hormone levels – especially testosterone, anti-Müllerian hormone, 17-hydroxyprogesterone, and gonadotropins – and karyotyping.

scholarly journals SAT-068 Bewilderment! Sex Chromosome Non-Invasive Prenatal Screening (NIPS) Results Differ from Phenotype and Postnatal Karyotype

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Eliana Melissa Perez-Garcia ◽  
Nabiha Shahid ◽  
Svetlana Yatsenko ◽  
Francis Xavier Schneck ◽  
Selma Feldman Witchel
Keyword(s):  
Health Care ◽  
Cord Blood ◽  
Health Care Providers ◽  
Sex Chromosome ◽  
Female Infant ◽  
Complex Congenital Heart Disease ◽  
Normal Female ◽  
Fish Analysis ◽  
Care Providers ◽  
Internal Genitalia

Abstract Background NIPS uses cell-free DNA in maternal serum to identify fetal aneuploidies including sex chromosome aneuploidies (SCA).1 Despite reports of high sensitivity and specificity, NIPS results, phenotype, and postnatal karyotype may be inconsistent. This situation generates parental anxiety and physician apprehension especially when the apparent genital phenotype differs from the NIPS result. We report four cases involving genotype-phenotype discordance in infants with disorders of sex development (DSD). Case 1: Female infant with complex congenital heart disease had inconclusive NIPS results. Postnatal karyotype was 46,XY karyotype (positive for SRY gene). Ultrasound [US] confirmed female internal genitalia. Postnatal karyotype on uncultured peripheral blood cells with FISH showed mosaicism [46,XY (85%)/45,X (15%)]. Case 2: Female infant conceived via IVF had 46,XY karyotype on NIPS. Prenatal and postnatal US showed female internal genitalia. Postnatal results showed 46,XX karyotype and Urine FISH analysis reported XX in all examined cells. Maternal karyotype is 46,XX; maternal FISH results are pending. Case 3: NIPS reported 45,X. Prenatal US showed male external genitalia. Postnatal exam showed male phenotype with right gonad in inguinal region. Cord blood karyotype and FISH analyses showed mosaicism [45,X (56%)/46,XY (44%)] with 4 different Y chromosome rearrangements. Urine FISH showed mosaicism [45,X (95%)/46,XY (5%)]. Testosterone and AMH concentrations were normal. Case 4: NIPS reported 46,XY karyotype. Prenatal US showed normal female genitalia. Postnatal physical exam revealed low set ears; additional studies revealed horseshoe kidney and atrial septal defect. Cord blood showed mosaicism [45,X (90%)/46,XY (10%)]. Conclusion Discrepancies between NIPS and postnatal karyotype occur more commonly with SCA than for autosomal aneuploidies.2 Such inconsistencies generate anxiety regarding sex of fetus, suggest a DSD diagnosis, and warrant additional prenatal and postnatal investigations. Testing to prevent missed detection of sex chromosome mosaicism is necessary. Early diagnosis of DSDs benefits the infant and the family. In some instances, NIPS expose undiagnosed maternal factors.3 Most importantly, communication involving parents and both prenatal and postnatal health care providers is essential to promote timely holistic health care for the infant and family. References 1.Palka C et al., Eur J Obstet Gynecol Reprod Biol X. 2019; 3:100050 2.Ramdaney A et al., Prenat Diagn. 2018;38:841 3.Richardson EJ, et al., Prenat Diagn. 2017;37:1298 Footnotes

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