Endocrine and immunogenetic evaluation of an XX male infant with perineoscrotal hypospadias

1985 ◽  
Vol 108 (3) ◽  
pp. 421-427 ◽  
Author(s):  
S. Kofman-Alfaro ◽  
E. Valdés ◽  
J. Terá ◽  
S. S. Wachtel ◽  
B. Chávez ◽  
...  
Keyword(s):  
Specific Binding ◽  
Chromosome Complement ◽  
External Genitalia ◽  
Male Infant ◽  
Serum Testosterone ◽  
Normal Activity ◽  
Significant Rise ◽  
Cultured Fibroblasts ◽  
Genital Ambiguity ◽  
Xx Male

Abstract. To clarify the origin of the genital ambiguity occasionally associated with the XX male syndrome, a series of endocrinological studies were undertaken in an affected 6 months old infant with perineoscrotal hypospadias. The patient fulfilled all the diagnostic criteria of the syndrome: the testes were descended bilaterally, the Mullerian derivatives were absent, the 46,XX chromosome complement was ascertained in different cell lines, and male levels of H-Y antigen were detected in cultured skin fibroblasts. Circulating gonadotrophin levels and pituitary LRH responsiveness were within normal limits for the age group. Serum testosterone (T) levels were normal, and gonadal stimulation with hCG caused a significant rise on serum T. Incubations of [3H]T with fibroblasts from genital skin revealed normal activity of steroid 5α-reductase. Moreover, normal concentrations of thermostable cytosol androgen receptors were revealed in cultured fibroblasts. Altogether the results indicated that ambiguity of the external genitalia in this patient was the result of neither abnormal T biosynthesis, peripheral A-ring T reduction, nor androgen intracellular specific binding, and suggested that the nature of the imcomplete virilization could be a non-endocrine independent event associated to this disorder. The data are also consistent with the notion that testicular impairment observed in adult XX males develops later in life.

ENDOCRINE STUDIES AND SUCCESSFUL TREATMENT IN A PATIENT WITH TRUE HERMAPHRODITISM

1979 ◽  
Vol 91 (1) ◽  
pp. 184-192
Author(s):  
Evangelina Valdés ◽  
Carlos Fernández del Castillo ◽  
Raul Gutiérrez ◽  
Fernando Larrea ◽  
Martha Medina ◽  
...  
Keyword(s):  
Chromosome Complement ◽  
Reproductive Function ◽  
External Genitalia ◽  
Serum Testosterone ◽  
Serum Levels ◽  
Normal Children ◽  
Serum Lh ◽  
Genital Ambiguity ◽  
And Gender ◽  
Lh Rh

ABSTRACT A 12-year old, 46 XX true hermaphrodite born with genital ambiguity was studied and successfully treated. The serum LH and FSH profile resembled that of a pubertal normal individual, and LH-RH administration induced a normal LH response. Baseline testosterone serum levels were within the range for normal children. Exogenous HCG stimulation induced a significant serum testosterone increase up to values similar to those observed in normal post-pubertal males. Surgical examination disclosed the presence of bilateral ovotestis, normal Mullerian derivatives, epididymis, and vas deferens. A complete ovotestis with testicular predominance and the testicular portion of the contralateral ovotestis as well as the Wolffian derivatives, were removed. A further HCG stimulation 3 months after surgery, failed to induce serum testosterone increase. Spontaneous menarche was observed 6 months after surgery and ovulation was well documented. At present the patient has several characteristics of female sex including those of chromosome complement, gonad, internal and external genitalia, hormone levels and gender identity, thus demonstrating that treatment was successful and that reproductive function could be obtained. The finding of spontaneous ovulation following removal of the testicular portion suggests normal cyclic gonadotrophic release implying a difference between animal models and man in regard to hypothalamic virilization.

scholarly journals 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study

2014 ◽  
Vol 132 (6) ◽  
pp. 332-338 ◽  
Author(s):  
Rafael Fabiano Machado Rosa ◽  
Willy Francisco Bartel D'Ecclesiis ◽  
Raquel Papandreus Dibbi ◽  
Rosana Cardoso Manique Rosa ◽  
Patrícia Trevisan ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Turner Syndrome ◽  
Early Recognition ◽  
External Genitalia ◽  
Ambiguous Genitalia ◽  
Referral Hospital ◽  
Clinical Genetics ◽  
Sex Development ◽  
Genital Ambiguity ◽  
The Individual

CONTEXT AND OBJECTIVE: 45,X/46,XY mosaicism, or mixed gonadal dysgenesis, is considered to be a rare disorder of sex development. The aim of our study was to investigate the clinical and cytogenetic characteristics of patients with this mosaicism.DESIGN AND SETTING: A retrospective study in a referral hospital in southern Brazil.METHODS: Our sample consisted of patients diagnosed at the clinical genetics service of a referral hospital in southern Brazil, from 1975 to 2012. Clinical and cytogenetic data were collected from the medical records.RESULTS: Fourteen patients were included in the sample, with ages at the first evaluation ranging from 2 days to 38 years. Nine of them had female sex of rearing and five, male. Regarding the external genitalia, most were ambiguous (n = 10). One patient presented male phenotype and was treated for a history of azoospermia, while three patients presented female phenotype, of whom two had findings of Turner syndrome and one presented secondary amenorrhea alone. Some findings of Turner syndrome were observed even among patients with ambiguous genitalia. None presented gonadal malignancy. One patient underwent surgical correction for genital ambiguity and subsequent exchange of sex of rearing. Regarding cytogenetics, we did not observe any direct correlation between percentages of cell lines and phenotype.CONCLUSIONS: 45,X/46,XY mosaicism can present with a wide variety of phenotypes resulting from the involvement of different aspects of the individual. All these observations have important implications for early recognition of these patients and their appropriate management.

scholarly journals Hermafroditismo verdadeiro na espécie canina

2017 ◽  
Vol 45 ◽  
pp. 5
Author(s):  
Paula Priscila Correia Costa ◽  
Cleyson Teófilo Braga Filho ◽  
Luana Azevedo Freitas ◽  
Maressa Holanda Dos Santos ◽  
Leonardo Alves Rodrigues Cabral ◽  
...  
Keyword(s):  
Complete Blood Count ◽  
Body Condition Score ◽  
External Genitalia ◽  
Abdominal Ultrasound ◽  
General Term ◽  
Lower Quadrant ◽  
True Hermaphrodite ◽  
Genital Ambiguity ◽  
The Right ◽  
Umbilical Scar

Background: Hermaphroditism or intersex is a general term that includes various congenital anomalies of the genital system which is used to define animals with ambiguous sexual characteristics. It occurs in domestic animals, more commonly in pigs and goats, and rarely in horses, dogs, sheep, and cattle. The prevalence of hermaphroditism varies a lot among breeds and species and is higher in groups with a high degree of consanguinity. Therefore, the objective of this report is to describe a case of canine hermaphroditism in a dog with male phenotype, as well as the anatomical and hormonal findings, and classification of the hermaphroditism exhibited by the animal studied.Case: A 1-year-old, mongrel, 5 kg dog was referred to the UHV-UECE due to the presence of a slit on the lower quadrant of the abdomen, caudal to the umbilical scar. At examination, the animal exhibited normal rectal temperature, no alterations of palpable lymph nodes, and a satisfactory body condition score. The pubic area had 2 testicles, each one in a different scrotum, 1 to the right and 1 to the left of the slit. A prepuce with no apparent function was present cranially to the slit, closer to the umbilical scar. At the other extremity of the slit, on the pubic region, there was a flaccid structure similar to a penis (micropenis) with no penile bone and no function. The slit was open until the area ventral to the anus, where the urethra was detected. The animal exhibited a behavior of territory demarcation with urine typically seen in male dogs. Orchiectomy and slit correction surgery were performed. Pre-surgical exams included: complete blood count and hormonal doses of estradiol, testosterone, and progesterone. Abdominal ultrasound was performed to assess presence of sexual glands and gonads. The hormonal exam revealed: estradiol 56.39 pg/mL; testosterone 127.9 ng/mL; progesterone 0.892 ng/mL. A uterus was not detected on ultrasound examination. Ovaries were seen on their typical anatomical position; they were symmetrical and had normal sizes. There was a normal size prostate in the pelvic area, exhibiting normal texture and echogenicity. No other abnormalities were seen and the owner opted for no further surgical intervention.Discussion: Testosterone predominance explains the male behavior and appearance, demonstrating that the testis were prevalent over the ovaries. The occurrence of XX males has been reported. The genetic cause is the absence of the SRY chromosome, which has a fundamental role on activation of the SOX gene, which is responsible for sex determination. Clinically, a true hermaphrodite can exhibit different degrees of genital ambiguity; they can be diagnosed during puberty with the emergence of heterosexual characteristics, or as an adult, with infertility or gonadal neoplasia. True hermaphrodites are individuals with testicular and ovarian tissues, either combined in one gonad (ovotestis) or present as two separate gonads. The presence of ovaries and testicles can be confirmed by histology, which was not performed in this study. However, ultrasound findings (prostate and ovaries), and the presence of normal testis and external genitalia without a defined penis or vulva are in accordance with the description of a true hermaphrodite.

scholarly journals Sex Differences in Ischemic Stroke Sensitivity Are Influenced by Gonadal Hormones, Not by Sex Chromosome Complement

2014 ◽  
Vol 35 (2) ◽  
pp. 221-229 ◽  
Author(s):  
Bharti Manwani ◽  
Kathryn Bentivegna ◽  
Sharon E Benashski ◽  
Venugopal Reddy Venna ◽  
Yan Xu ◽  
...  
Keyword(s):  
Sex Differences ◽  
Ischemic Stroke ◽  
Sex Hormones ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Serum Testosterone ◽  
Gonadal Hormones ◽  
Epidemiologic Studies ◽  
Artery Occlusion ◽  
Male Mice

Epidemiologic studies have shown sex differences in ischemic stroke. The four core genotype (FCG) mouse model, in which the testes determining gene, Sry, has been moved from Y chromosome to an autosome, was used to dissociate the effects of sex hormones from sex chromosome in ischemic stroke outcome. Middle cerebral artery occlusion (MCAO) in gonad intact FCG mice revealed that gonadal males (XXM and XYM) had significantly higher infarct volumes as compared with gonadal females (XXF and XYF). Serum testosterone levels were equivalent in adult XXM and XYM, as was serum estrogen in XXF and XYF mice. To remove the effects of gonadal hormones, gonadectomized FCG mice were subjected to MCAO. Gonadectomy significantly increased infarct volumes in females, while no change was seen in gonadectomized males, indicating that estrogen loss increases ischemic sensitivity. Estradiol supplementation in gonadectomized FCG mice rescued this phenotype. Interestingly, FCG male mice were less sensitive to effects of hormones. This may be due to enhanced expression of the transgene Sry in brains of FCG male mice. Sex differences in ischemic stroke sensitivity appear to be shaped by organizational and activational effects of sex hormones, rather than sex chromosomal complement.

scholarly journals Surface Rendering of External Genitalia of a Fetus at the 32nd Week of Gestation Affected by Partial Androgen Insensitivity Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Vincenzo Mazza ◽  
Emma Bertucci ◽  
Silvia Latella ◽  
Carlotta Cani ◽  
Pierluca Ceccarelli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
External Genitalia ◽  
Androgen Insensitivity Syndrome ◽  
Surface Rendering ◽  
Sry Gene ◽  
Androgen Insensitivity ◽  
4D Ultrasound ◽  
Genital Ambiguity ◽  
Parental Counseling ◽  
Partial Androgen Insensitivity Syndrome

Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound.Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5α-reductase 2 gene (SRD5A2).Results. 3D-4D surface rendering allows the detection of external and internal genital malformations and can address the prenatal diagnosis of PAIS and can exclude associated complications.Conclusions. Prenatal diagnosis of PAIS allows an adequate parental counseling and an early optimal management of the condition, not only for the psychological and social reflections but also for the avoidance of complications and postnatal morbidity due to misdiagnosis or delays in the treatment of the genital ambiguity.

The role of gonadal steroids in feedback regulation of gonadotropin secretion at different stages of primate development

1987 ◽  
Vol 114 (2) ◽  
pp. 257-268 ◽  
Author(s):  
J. S. D. Winter ◽  
L. Ellsworth ◽  
G. Fuller ◽  
W. C. Hobson ◽  
F. I. Reyes ◽  
...  
Keyword(s):  
Feedback Inhibition ◽  
Feedback Regulation ◽  
Serum Testosterone ◽  
Significant Rise ◽  
Sexually Dimorphic ◽  
Adult Males ◽  
Gonadotropin Secretion ◽  
Central Inhibition ◽  
Serum Gonadotropin ◽  
One Year

Abstract. The serum gonadotropin response to castration was assessed in 8 foetal, 2 neonatal, 30 juvenile, and 2 adult rhesus monkeys (M. mulatta). In the 30 castrated juvenile monkeys and 8 sham-operated controls, concentrations of oestrone, oestradiol, androstenedione, dihydrotestosterone, testosterone and 17OH-progesterone were measured in 10 ml serum pools before, one month after, and one year after the surgical procedure. Castration during foetal life (83–137 days gestation) was followed within 48–72 h by a significant rise in serum FSH levels in males, but had no effect on the already high levels in females. Similarly, castration of males during the first post-natal month raised serum FSH and LH into the adult castrate range; however, after 3 months of age serum gonadotropin levels again declined to the normal juvenile range in spite of the open feedback loop. Orchiectomy of pre-pubertal juvenile monkeys (age 3 months–28/12 years) had no immediate effect on serum gonadotropins, but was followed by a delayed rise in FSH (at age 23/12–43/12 years) and LH (at age 27/12–44/12 years) to adult castrate levels. Orchiectomy of older prepubertal (by serum testosterone) or adult males resulted within a few days in a progressive and sustained rise in serum FSH and a more gradual rise in LH. Prepubertal gonadotropin regulation appeared to be sexually dimorphic, since ovariectomy in juvenile females (age 3 months–15/12 years) was followed by generally elevated, if somewhat erratic, serum FSH values, with a secondary rise in both FSH and LH levels at 2–21/12 years. In both sexes, prepubertal castration caused a significant and sustained decline in serum concentrations of oestradiol; castrated males also showed a decline in serum testosterone levels. Although prepubertal castration also caused in both sexes a slight decline in serum oestrone, and ovariectomy a decline in serum androstenedione and dihydrotestosterone, these effects were not sustained one year later, and values were not significantly different from sham-operated controls. Taken together, these data lend support to a model of primate sexual maturation in which the primary regulator of gonadotropin secretion in both sexes during the prolonged juvenile phase is central inhibition of the hypothalamic GnRH regulator. However, during foetal and neonatal life, and again following the onset of puberty, the major modulator of gonadotropin secretion becomes sex steroid-mediated feedback inhibition.

Two SRY -negative XX male brothers without genital ambiguity

1997 ◽  
Vol 100 (5-6) ◽  
pp. 606-610 ◽  
Author(s):  
Juan Carlos Zenteno ◽  
Marisol López ◽  
Clementina Vera ◽  
Juan Pablo Méndez ◽  
S. Kofman-Alfaro
Keyword(s):  
Genital Ambiguity ◽  
Xx Male

Azoospermia in XX male

1992 ◽  
Vol 59 (1_suppl) ◽  
pp. 261-263
Author(s):  
S. Montagna ◽  
G. Zacchè ◽  
C. Bondavalli
Keyword(s):  
Young Adult ◽  
Sexual Differentiation ◽  
Early Phase ◽  
Rare Case ◽  
Differentiation Process ◽  
Chromosome X ◽  
Testis Differentiation ◽  
Genital Ambiguity ◽  
Xx Male

The Authors report a case of azoospermia in a young adult who, though phenotypically a male, was a carrier of karyotype 46 XX. It is a rare case and is due to the precocious migration of fragment Y which produces testis differentiation on chromosome X. These sexual differentiation anomalies produce no genital ambiguity because the process takes place in the very early phase of the sexual differentiation process.

scholarly journals An 11-year-old girl with genital ambiguity: a case of non-classical congenital adrenal hyperplasia

2020 ◽  
Vol 10 (3) ◽  
pp. 204-206
Author(s):  
Aleya Ferdush Monni ◽  
Rezwana Sobhan ◽  
Md Faruque Pathan ◽  
Faria Afsana ◽  
Feroz Amin
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Stage Iv ◽  
External Genitalia ◽  
Lower Limbs ◽  
Breast Development ◽  
Growth Spurt ◽  
Normal Female ◽  
Adrenal Hyperplasia ◽  
Excessive Sweating ◽  
Genital Ambiguity

Congenital adrenal hyperplasia (CAH) describes a group of autosomal disorders where there is impairment of cortisol biosynthesis. Here is a case of 11-year-old girl who presented with enlargement of external genitalia, excessive growth of hair in pubis, axilla, face and lower limbs along with growth spurt, excessive sweating and deepening of voice for 4 years. On examination she had normal body habitus, hirsutism (modified Ferriman- Gallwey Score-8), acanthosis nigricans in neck and axillary region, Tanner staging revealed stage-II breast development and stage IV female pattern pubic hair. Genitalia examination showed clitoromegaly with normal labia majora, minora and urethral position. Chromosomal analysis showed a normal female 46XX karyotype with normal uterus and bilateral ovaries on ultrasonography. Serum testosterone was elevated and 17- hydroxyprogesterone (17 OHP) was mildly elevated, raising the suspicion of non-classical congenital adrenal hyperplasia which was confirmed later by performing short Synacthen test. Patient and her parents were counseled regarding the diagnosis and clitoroplasty was done and prednisolone 5 mg daily at night in reverse circadian rhythm started. After 3 months of treatment, her hirsutism significantly reduced and menstruation had begun. Birdem Med J 2020; 10(3): 204-206

TRIPLE MOSAICISM OF THE SEX CHROMOSOMES IN A PHENOTYPICAL FEMALE

1964 ◽  
Vol 46 (3) ◽  
pp. 336-340 ◽  
Author(s):  
J. B. Bijlsma ◽  
J. James ◽  
W. Drukker
Keyword(s):  
Sex Chromosome ◽  
Chromosome Complement ◽  
Strong Support ◽  
Chromosome Analysis ◽  
Cultured Fibroblasts ◽  
Primary Amenorrhoea ◽  
Secondary Sexual Characteristics ◽  
Vaginal Epithelial Cells ◽  
Sex Chromatin ◽  
Sexual Characteristics

ABSTRACT A patient is described showing a female phenotype, but with under-development of secondary sexual characteristics and primary amenorrhoea. Chromosome analysis in skin and blood cultures revealed the presence of nuclei with 44 autosomes and an XO, XX or XXX sex chromosome complement; metaphases with an XX and XXX constitution were, however, very scanty. The sex chromatin pattern gave strong support to the assumption that there was a triple mosaicism of the XO/XX/XXX type, as nuclei with one and nuclei with two Barr bodies were found – with a high proportion of negative nuclei – in buccal and vaginal epithelial cells and cultured fibroblasts. Some problems of a quantitative nature in this respect are discussed.

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