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

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.

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.

Ambiguous Genitalia in XX Male Children: Report of Two Infants

PEDIATRICS ◽  
1977 ◽  
Vol 60 (1) ◽  
pp. 55-59
Author(s):  
Thomas F. Roe ◽  
Omar S. Alfi
Keyword(s):  
Y Chromosome ◽  
Blood Group ◽  
High Frequency ◽  
Indirect Evidence ◽  
Ambiguous Genitalia ◽  
Apparent Absence ◽  
Inheritance Patterns ◽  
Genital Ambiguity ◽  
Xx Males ◽  
Xx Male

Two infants with ambiguous genitalia were recognized to have the XX male syndrome. Although most xx males have normal penile development, a review of the reported cases showed that eight of the 14 affected children, diagnosed before age 15 years, had penile abnormalities, most commonly hypospadias and/or chordee. This syndrome should be considered in children with incomplete genital differentiation. The available indirect evidence suggests that deficient testosterone production by the fetal testes accounts for the genital ambiguity. Although no explanation has been established for the presence of testes in the apparent absence of the Y chromosome, studies of the X-linked Xg blood group in XX males demonstrate a high frequency of unusual inheritance patterns. This implies that the abnormality in the transmission of maleness in affected families may also be X-related rather than autosomal.

scholarly journals Role of Transperineal Ultrasound (TPUS) in Children with Ambiguous Genitalia

2021 ◽  
Author(s):  
Krithika Rangarajan ◽  
Manisha Jana ◽  
Nagesh Wadgera ◽  
Arun Kumar Gupta ◽  
Minu Bajpai ◽  
...  
Keyword(s):  
Gold Standard ◽  
Sex Differentiation ◽  
Ambiguous Genitalia ◽  
Transperineal Ultrasound ◽  
Transabdominal Ultrasound ◽  
Resonance Imaging ◽  
Normal Children ◽  
Genital Ambiguity ◽  
Magnetic Resonance Imaging Mri

Abstract Objectives Accurate delineation of anatomy in children with ambiguous genitalia early in life is important. This commonly involves conventional fluoroscopic genitogram (traumatic to the child) and magnetic resonance imaging (MRI) examination (involves sedation). In this study, our objectives were twofold: (1) to describe the findings on transperineal ultrasound (TPUS) in normal children and (2) to describe the findings on TPUS in children with ambiguous genitalia and correlate them with conventional genitogram. Materials and Methods TPUS was prospectively performed in 10 children without genital ambiguity (5 girls and 5 boys). Subsequently, 15 consecutive children having disorders of sex differentiation (DSDs) with genital ambiguity underwent TPUS. The presence or absence of müllerian structures was documented. Of these patients, 14 also underwent conventional genitogram as a part of routine evaluation. The gold standard was established either by comparison with surgical findings (in patients who underwent surgery) or by comparison with a combination of findings on genitogram and transabdominal ultrasound in patients who did not undergo surgery. Results In all normal children, lower urogenital tracts could be clearly delineated on TPUS. Out of the 15 children with ambiguous genitalia, TPUS could establish the presence/absence of müllerian structures in 14. This was concordant with findings on conventional genitogram/surgery. In one patient, müllerian structure was missed on TPUS but demonstrated on genitogram. In two children, TPUS showed the müllerian structure, which was not seen on genitogram. When both the controls and the cases were combined, TPUS had an accuracy of 95% and specificity of 100% in the detection of müllerian structures. Conclusion TPUS is feasible and accurate in demonstration of lower urogenital tract anatomy in children with DSDs having ambiguous genitalia. It can be performed without sedation, and is suitable for use as a screening modality in children with ambiguous genitalia.

An XX male with a 46,XX/47,XX,+Y(q12?qter) karyotype

1982 ◽  
Vol 60 (1) ◽  
pp. 82-84 ◽  
Author(s):  
Rosa Mir� ◽  
M. Rosa Caball�n ◽  
M. Dolores Coll ◽  
S. Marina ◽  
J. Egozcue
Keyword(s):  
Xx Male

Three New 46,XX Male Patients: A Clinical, Cytogenetic and Molecular Analysis

2005 ◽  
Vol 18 (2) ◽  
Author(s):  
Anca Grigorescu-Sido ◽  
Udo Heinrich ◽  
Paula Grigorescu-Sido ◽  
Anna Jauch ◽  
Hans-Dieter Hager ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Male Patients ◽  
Xx Male

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.

An XX male with an intratubular undifferentiated germ cell neoplasia

2008 ◽  
Vol 90 (5) ◽  
pp. 2005.e3-2005.e5 ◽  
Author(s):  
Atilano Carcavilla ◽  
Milagros Alonso ◽  
Begoña Ezquieta ◽  
Eva García-Galloway ◽  
Raquel Barrio ◽  
...  
Keyword(s):  
Germ Cell ◽  
Xx Male

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.

Sign in / Sign up

Export Citation Format

Share Document