Presence Of Testicular Tissue Research Articles

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study. Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected. We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia. This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.

Persistent stallion-like behavior is rarely associated with changes in hormonal markers in the equine cryptorchid suspects: a retrospective study

Persistent stallion-like and/or aggressive behavior is a common symptom of cryptorchidism or incomplete castration in supposed geldings. Hormones secreted by Leydig and Sertoli cells in testicular tissues, such as testosterone and/or anti-Müllerian hormone (AMH), can be used to evaluate the possible presence of testicular tissues in suspected cryptorchids. Currently, there is little known about the association between the presence of testicular tissue and the prevalence of persistent stallion-like behavior in cryptorchids. In the current study, we evaluated the association between abnormal behaviors and concentrations of AMH and testosterone. From the samples submitted to the UC Davis Endocrinology Laboratory between 2011-2020, 1,202 cases were suspected cryptorchids with behavior complains. These cases included the words “behavior”, “behave”, and/or “behaving” in their submitted histories. Testosterone was the most frequently requested hormone among all the samples. Of the 1,202 cases, testosterone was measured in 1,056 samples (∼88%). Interestingly, in the majority of these cases (875/1,056; 82.8%), the measured concentrationof testosterone was below the laboratory range for cryptorchids (>100pg/ml). Similarly, among 877 samples submitted for AMH measurement, 682 (77.8%) did not reach cryptorchid/stallion-like concentrations (>0.15 ng/ml), indicating an absence of any testicular tissue. Both hormones were measured in 790 cases and both values were below the cryptorchid/stallion-like concentration in 608 of the cases (77%). There was a significant correlation between the concentration of both hormones among the samples (r=0.84; P<0.0001). Additionally, 54 samples that were submitted with a history of aggressive behavior towards people or other horses, but without reported sexual/‘stud-like’ behavior, were analyzed. In 43 cases (79.6 %) both hormones (AMH and testosterone) did not reach cryptorchid-like concentrations. Among the remained 11 horses, all had elevated concentrations of AMH and three cases had elevated concentrations of both AMH and testosterone. The results of this study demonstrate that undesirable behaviors in geldings are rarely associated with presence of testicular tissue as indicated by biomarkers such as AMH and testosterone.

Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review

Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles) in the same individual. In SRY-negative 46,XX OT-DSD, the presence of testicular tissue may be due to variations in NR5A1. Our aims were to search for NR5A1 variants in SRY-negative 46,XX OT-DSD patients and to perform a systematic review on the contribution of NR5A1 variations to 46,XX OT-DSD. Methods: Sanger sequencing of NR5A1 was performed in seven SRY-negative 46,XX OT-DSD patients: five simplex cases and two with another sibling with a 46,XX DSD. Systematic review of original studies on NR5A1 sequencing of 46,XX OT-DSD patients was performed according to PRISMA-P guideline. Case reports were selected for analysis of clinical features. Individuals with NR5A1-associated testicular DSD were not included. Results: Sanger sequencing of NR5A1 did not reveal pathogenic variants among our patients. Our cohort was included in this systematic review with seven other articles, totalizing fifty-six 46,XX OT-DSD patients investigated by Sanger or whole-exome sequencing. From them, three NR5A1 pathogenic variants were identified (5% of the cases). Clinical analysis of these 3 cases and 5 case reports revealed: predominance of ovotestis (13/16 gonads) and bilateral OT-DSD (5/8 cases). Conclusion: The etiology of most 46,XX OT-DSD cases remains elusive, highlighting the importance of a deeper molecular investigation.

Multiscale analysis of SRY-positive 46,XX testicular disorder of sex development: Presentation of nine cases.

46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex-determining region Y (SRY)-positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY-positive 46,XX TDSD and give the details and follow-up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean±standard deviation (SD) height of the patients was 164.78±8.0cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY-positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.

Disorders of Sex Development Are an Emerging Problem in French Bulldogs: A Description of Six New Cases and a Review of the Literature

Disorders of sex development (DSD) are a well-known cause of sterility and reduced fertility in dogs. Here, we report on 6 new cases of DSD in French bulldogs diagnosed by us within the last year. The animals were phenotypical females who underwent detailed diagnosis due to the presence of an enlarged clitoris or a penis-like structure with atypically located urethral orifice (hypospadias). A female karyotype (78,XX) and lack of Y-linked genes (SRY and ZFY) were observed in 5 cases, which were classified as XX (SRY-negative) DSD. Gonads histology could be performed in 4 XX DSD cases: testicular tissue was observed in 3 cases and ovotesticular tissue in 1 case. In the last case, leukocyte chimerism (XX/XY) was detected alongside an ovotestis with epididymis and fallopian tubes. This case was classified as freemartinism. Our study and a literature review showed that heritable XX (SRY-negative) DSD is quite common in French bulldogs, but spontaneously developed freemartinism can be also diagnosed. In conclusion, we postulate that the description of the sexual phenotype of DSD females (enlarged clitoris and presence of testicular tissue) does not distinguish between hereditary XX DSD and nonhereditary freemartinism. Cytogenetic and molecular analyses are thus necessary to correctly diagnose such cases. This is especially important for the French bulldog breed, as a rapid increase in its population could spread hereditary DSD.

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.

Diagnostische benadering van cryptorchidie bij de hengst

De diagnose van cryptorchidie bij het paard is vaak een uitdaging aangezien niet altijd definitief uitsluitsel kan gegeven worden op basis van de anamnese, het klinische onderzoek en het rectaal en echografisch onderzoek. Verschillende endocrinologische diagnostische testen zoals de bepaling van het testosteron-, androstenedione-, oestrogenen-, urinaire steroïden- en het antimülleriaans hormoongehalte, die de aanwezigheid van testiculair weefsel aantonen, zijn beschreven. In dit artikel wordt getracht om de voor- en nadelen van deze testen te vergelijken, zodat practici een idee krijgen welke testen in de praktijk gebruikt kunnen worden.

A rare case report of 46XY mixed gonadal dysgenesis

A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner's stigmata. She was taking steroids after being misdiagnosed as congenital adrenal hyperplasia (CAH). Karyotype analysis revealed 46XY karyotype. There was no evidence of hypocortisolemia (cortisol 9.08 μg/dl, adrenocorticotropic hormone [ACTH] 82.5 pg/ml) or elevated level of 17-OH-progesterone (0.16 ng/ml). Pooled luteinizing hormone (LH) was 11.79 mIU/ml and follicle-stimulating hormone (FSH) was 66.37 mIU/ml. Serum estradiol level was 25 pg/ml (21-251). Basal and 72 h post beta-human chorionic gonadotropin (hCG) levels of androstenedione and testosterone levels were done (basal testosterone of 652 ng/dl and basal androstenedione of 1.17 ng/ml; 72 h post hCG testosterone of 896 ng/dl and androstenedione of 1.34 ng/ml). Magnetic resonance imaging (MRI) pelvis (with ultrasonogrphy [USG] correlation) revealed uterus didelphys with obstructed right moiety and bilateral ovarian-like structures. Right sided gonads and adjacent tubal structures were visualized laparoscopically and removed. Left sided gonads were not visualized and Mullerian remnants were adhered to sigmoid colon. Histopathological examination revealed presence of testicular tissue showing atrophic seminiferous tubules with hyperplasia of Leydig cells. No ovarian tissue was seen. Based on these results a diagnosis of 46XY mixed gonadal dysgenesis (MGD) was made, which is rare and is difficult to distinguish from 46XY ovotesticular disorder of sexual differentiation (OT-DSD). The patient was managed with a multidisciplinary approach and fertility issues discussed with the patient's caregivers.

Male pseudohermaphroditism in a Labrador Retriever, and a review of mammalian sexual differentiation

CASE HISTORY: An 8-month-old Labrador Retriever was referred with a history of ambiguous external genitalia. CLINICAL FINDINGS AND TREATMENT: Clitoromegaly within apparent vulval folds, and an adjacent subcutaneous mass were noticed on external examination. An intra-abdominal testicle, with epididymis and suspected vas deferens ducts, was found during exploratory celiotomy. Incision over the subcutaneous mass revealed the accompanying testicle. Clitoridectomy was performed and an os clitoris removed. Normal juvenile testes were diagnosed on histology of the gonads. Chromosomal studies revealed a normal 78, XY male chromosomal constitution. Due to the combination of a male karyotype (78, XY), the presence of testicular tissue in the gonads, and the appearance of the external genitalia, a diagnosis of male pseudohermaphroditism (MPH) was made. CLINICAL RELEVANCE: This case presents the first report of MPH in a Labrador Retriever, and highlights the diagnostic steps recommended when confronted with a dog with ambiguous external genitalia.

The role of Müllerian inhibiting substance in the evaluation of phenotypic female patients with mild degrees of virilization.

Müllerian inhibiting substance (MIS) is a sexually dimorphic gonadal hormone with proven efficacy in the evaluation of boys with cryptorchidism and children with intersex conditions. We examined the role of MIS determination in the evaluation of 65 phenotypic females with mild virilization. Among the 28 subjects with MIS values elevated above the normal female range, all had abnormal gonadal tissue: ovotestes in 11, testes in 7, dysgenetic gonads in 7, and MIS-secreting ovarian tumors in 3. Among the 37 children with serum MIS in the normal female range, 19 had detectable MIS and 18 had unmeasurable MIS. In the former group with measurable but normal female MIS values, 16 subjects had ovaries, 1 had an ovotestis, and 1 had dysgenetic gonads containing testicular elements. Of 18 children with undetectable MIS values, 16 had ovaries and 2 had ovarian dysgenesis. In this study, elevation of serum MIS above the normal female range was consistently associated with the presence of testicular tissue or MIS- secreting tumors, mandating additional evaluation and surgical exploration. A value within the normal female range in a virilized patient did not exclude dysgenetic testicular tissue or ovotestis, whereas undetectable values were consistent with the absence of testicular tissue.

Sexual Differentiation of the Zebra Finch Song System Parallels Genetic, Not Gonadal, Sex

Mechanisms regulating sexual differentiation of the zebra finch song system present an intriguing puzzle. Masculine development of brain regions and behavior can be induced in genetic females by posthatching estradiol treatment. That result is consistent with the hypothesis that estradiol, converted within the brain from testicular androgen via the aromatase enzyme, masculinizes neural structure and function. In contrast, treatment during specific stages of development with the aromatase inhibitor Fadrozole has not prevented masculine development, and the presence of testicular tissue in genetic females did not induce masculine organization of neuroanatomy or singing behavior. Fadrozole treatments in those previous studies were limited, however, and most genetic females had both ovarian and testicular tissue. The present experiments were designed to provide increased aromatase inhibition and to reliably produce genetic females with only testicular tissue. Eggs received a single injection at a later age or with higher doses of Fadrozole than had been used previously. Some embryos were exposed to Fadrozole more frequently by either injecting eggs on 2 days of development or dipping them for 10–12 days in Fadrozole. Finally, in some individuals from Fadrozole-treated eggs, the left gonad was removed, leaving each genetic male and female with a single right testis. None of these treatments significantly affected development of the song system compared to appropriate control groups. These results suggest that sexual differentiation of the zebra finch song system is not regulated by embryonic aromatase activity or by gonadal secretions and instead involves events that need not be mediated by steroid hormones.

Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement.

Fetal male sexual differentiation is driven by two testicular hormones: testosterone (synthesized by interstitial Leydig cells) and antimüllerian hormone (AMH; produced by Sertoli cells present in the seminiferous tubules). Intersex states result either from gonadal dysgenesis, in which both Leydig and Sertoli cell populations are affected, or from impaired secretion or action of either testosterone or AMH. Until now, only Leydig cell function has been assessed in children with ambiguous genitalia, by means of testosterone assay. To determine whether serum AMH would help in the diagnosis of intersex conditions, we assayed serum AMH levels in 107 patients with ambiguous genitalia of various etiologies. In XY patients, AMH was low when the intersex condition was caused by abnormal testicular determination (including pure and partial gonadal dysgenesis) but was normal or elevated in patients with impaired testosterone secretion, whereas serum testosterone was low in both groups. AMH was also elevated during the first year of life and at puberty in intersex states caused by androgen insensitivity. In 46,XX patients with a normal male phenotype or ambiguous genitalia, in whom the diagnosis of female pseudohermaphroditism had been excluded, serum AMH levels higher than 75 pmol/L were indicative of the presence of testicular tissue and correlated with the mass of functional testicular parenchyma. In conclusion, serum AMH determination is a powerful tool to assess Sertoli cell function in children with intersex states, and it helps to distinguish between defects of male sexual differentiation caused by abnormal testicular determination and those resulting from isolated impairment of testosterone secretion or action.

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.

Male pseudohermaphroditism (MPH) is characterized by incomplete differentiation of male genitalia in the presence of testicular tissue. Enzymatic defects involving androgen synthesis or action are causes of MPH. We studied the molecular genetics of a large isolated inbred Turkish kindred with MPH due to either 5 alpha-reductase-2 (SRD5A2) or 17 beta-hydroxysteroid dehydrogenase-3 (17 beta HSD3) gene defects. Using single strand DNA conformational polymorphism analysis and DNA sequencing, a new mutation in exon 5 of SRD5A2 gene was detected in certain male pseudohermaphrodites from this kindred. This single base deletion (adenine) resulted in a frame shift at amino acid position 251 resulting in the addition of 23 amino acids at the carboxyl-terminal of this 254-amino acid isozyme. Transfection expression of the mutant isozyme in CV1 cells showed a complete loss of enzymatic activity in the conversion of [14C]testosterone to dihydrotestosterone, without a change in the messenger ribonucleic acid level compared to that of the wild-type isozyme. Analysis of the 17 beta HSD3 gene in other male pseudohermaphrodites from this kindred revealed a single point mutation (G-->A) at the boundary between intron 8 and exon 9, disrupting the splice acceptor site of exon 9. In this kindred, in addition to the identification of male pseudohermaphrodites with either a homozygous SRD5A2 or 17 beta HSD3 gene defect, other male pseudohermaphrodites were found to be genetically more complex: e.g. homozygous for the SRD5A2 defect and heterozygous for the 17 beta HSD3 defect, or homozygous for the 17 beta HSD3 defect and heterozygous for the SRD5A2 defect. Also, phenotypically normal carriers were identified with either one or both gene defects. Homozygous male pseudohermaphrodites with SRD5A2 or 17 beta HSD3 gene defects were phenotypically distinguishable by the presence of mild gynecomastia in the latter. Hormone data were consistent with the particular homozygous gene defect. In summary, we show 1) the novel existence of two gene defects, SRD5A2 and 17 beta HSD3, each causing MPH within a large isolated Turkish kindred; 2) that the two defects segregate independently and may be inherited from two different progenitors; and 3) analysis of a new mutation in exon 5 of SRD5A2 gene, supporting the functional importance of the carboxyl-terminal of 5 alpha-reductase-2 isozyme.

Mullerian inhibiting substance in humans: normal levels from infancy to adulthood.

Mullerian-inhibiting substance (MIS) is a gonadal hormone synthesized by Sertoli cells of the testis and granulosa cells of the ovary. To facilitate the use of MIS for the evaluation of intersex disorders and as a tumor marker in women with MIS-expressing ovarian tumors, we measured MIS in 600 serum samples from males and females. These data show that mean MIS values for males rise rapidly during the first year of life and are highest during late infancy, then gradually decline until puberty. In contrast, MIS values in females are lowest at birth and exhibit a minimal increase throughout the prepubertal years. Whereas MIS is uniformly measurable in all prepubertal boys studied, it is undetectable in most prepubertal female subjects. These data reveal an easily discernible sexually dimorphic pattern of expression and confirm that MIS can be used as a testis-specific marker during infancy and early childhood. MIS values that are above the upper limits for females are discriminatory for the presence of testicular tissue or ovarian tumor, and those below the lower limits for males are consistent with dysgenetic or absent testes or the presence of ovarian tissue. These data will enable normal and abnormal levels of MIS to be differentiated with higher precision and will facilitate the use of MIS in the management of gonadal disorders.

Paediatric Applications of Anti-M&amp;uuml;llerian Hormone Research

Anti-müllerian hormone (AMH), a member of the transforming growth factor family also called müllerian-inhibiting substance or factor, is produced by immature Sertoli cells and, in much smaller amounts, by postnatal granulosa cells. Its paediatric applications are essentially diagnostic. Measurement of AMH concentration in serum by an enzyme-linked immunosorbent assay does not require prior gonadal stimulation and is useful to detect the presence of testicular tissue and assess its function before puberty. The assay can easily differentiate between bilateral cryptorchidism and anorchia and discriminates between non-adrenal female pseudohermaphroditism and true hermaphroditism, although in the latter condition, the serum AMH concentration is usually low because of testicular dysgenesis. After puberty, AMH becomes low or undetectable, due to down-regulation of AMH production by testosterone. This does not occur in androgen-insensitive patients. A rare form of male pseudohermaphroditism, the persistent müllerian duct syndrome, characterized by the persistence of a uterus and tubes in otherwise normally virilized males, is due to defects in genes coding for AMH or its receptor. Measurement of serum AMH concentration discriminates between the two aetiological forms of the syndrome.

Genetic analysis of 38XX males with genital ambiguities and true hermaphrodites in pigs

In pig, the frequency of intersexuality ranges from 0.1 to 0.6%, depending on the breed. In a closed pig herd at INRA an intersex condition was observed in 0.75% of 'females'. The present study describes 11 animals with a 38XX karyotype and the presence of testicular tissue. Phenotypically, all presented with abnormal external or/and internal genitalia. Southern blot analysis with Y-specific probes (SRY and ZFY) revealed the absence of Y material in all animals tested. By polymerase chain reaction (PCR) amplification, 10 of 11 intersex pigs lacked the SRY gene in gonad DNA. These data are compatible with an autosomally (or pseudoautosomally) determined mechanism. Moreover, analysis of familial cases seemed to indicate that 38XX male pseudohermaphrodites and 38XX true hermaphrodites may represent alternative manifestations of the same genetic defect.

Mullerian-inhibiting substance secretion is delayed in XX sex-reversed dog embryos.

Sertoli cell secretion of Mullerian-inhibiting substance (MIS) begins shortly after testis differentiation. Mullerian ducts regress following MIS exposure during an embryonic critical period. In dogs with XX sex reversal, Mullerian ducts persist in the presence of testicular tissue. This study was conducted to determine whether MIS is present in ovotestes of XX sex-reversed embryos during the period for Mullerian duct regression in normal males. XX sex-reversed embryos and normal littermates were identified by a combination of karyotype and gonadal histology. The degree of regression in the adjacent Mullerian duct was scored. Immunohistochemical staining was used to detect MIS in the contralateral gonad. Testicular differentiation and MIS secretion were identified in XY embryos at all ages studied (35-46 days). Seminiferous tubules were not observed in gonads of embryos at risk of XX sex reversal between 35-38 days (n = 15), but were observed at 40 and 46 days (n = 3). Although positive staining for MIS was observed in ovotestes, adjacent Mullerian ducts persisted. The degree of seminiferous tubule development was reduced and MIS secretion was delayed in ovotestes, compared to normal testes. Mullerian duct persistence in this model is apparently due to an abnormality in the quantity and timing of MIS secretion during embryonic development.

Is ipsilateral testis mandatory for contralateral testicular deterioration encountered following spermatic cord torsion?

Although deteriorating effects of unilateral spermatic cord torsion are generally accepted, the mechanism remains controversial. An experimental study was performed to evaluate the necessity of testicular and spermatogenetic material for contralateral testicular deterioration following unilateral spermatic cord torsion in rats. The animals were allocated to four groups: control, spermatic cord torsion, subepididymal orchiectomy, and spermatic cord torsion 14 days after subepididymal orchiectomy. The testes were removed on the 14th days and mean seminiferous tubular diameters and mean testicular biopsy scores were determined. Although contralateral testicular deterioration was more pronounced in the presence of testicular tissue, the absence of testicular tissue and/or spermatogenetic material did not prevent its occurrence. This is highly suggestive that autoimmune mechanism does not play a role in contralateral testicular damage following unilateral spermatic cord torsion.

HY INTERMEDIATE PHENOTYPE: A POSSIBLE CAUSE OF TESTICULAR DYSGENESIS

The HY antigen is closely associated with the presence of testicular tissue which is thought to be induced during embryogenesis by the interaction of HY and its receptor. In coded samples, we examined the HY antigen in peripheral lymphocytes from a patient with male pseudohermaphroditism and dysgenetic testes whose karyotype in lymphocytes and gonadal fibroblasts was 46 XY. Results are as follows (mean + SD): The patient's lymphocytes exhibited an HY phenotype intermediate between that of the normal male and normal female and between that of the patient's mother and father. These results indicate a correlation between HY phenotype and abnormal testicular development and suggests the possibility that a partial deficiency of HY may have been responsible for the testicular dysgenesis in this patient.

Induction of ovulation in a true hermaphrodite with male phenotype.

Ovulation was induced in a 16-yr-old 46 XX/47 XXY true hermaphrodite with a male phenotype. The presence of testicular tissue was assessed by a normal androgen response to hCG. Administration of FSH and LH for 8 consecutive days, followed by a single dose of hCG, induced a biphasic serum profile of 17 beta-estradiol and progesterone similar to that observed in normal menstrual cycles. In addition, a significant rise in serum testosterone was noticed during the luteal phase. Laparotomy revealed the presence of a uterus, with evidence of endometrial bleeding and absence of a vagina. These results demonstrated that gonadotropins were able to induce follicular maturation, ovulation, and endometrial bleeding in a true hermaphrodite resembling a normal ovulatory cycle. Gonadotropin administration can be used as a diagnostic tool for establishing the presence of ovarian tissue in this gonadal development abnormality.