scholarly journals Genital Ambiguity and Assignment of Sex - a Case Report

2020 ◽  
Vol 18 (2) ◽  
pp. 98-99
Author(s):  
ATM Mowladad Chowdhury ◽  
Shafiqur Rahman ◽  
Mohammad Abdul Aziz ◽  
Mirza Mahbubul Hasan ◽  
Nurunnahar Happy

A 15 year patient having 46XX karyotype, along with well developed male type of external genitalia and developing breast reported to us. It was assessed on all technical and judicious points and the male sex was assigned. Bangladesh Journal of Urology, Vol. 18, No. 2, July 2015 p.98-99

1979 ◽  
Vol 91 (1) ◽  
pp. 184-192
Author(s):  
Evangelina Valdés ◽  
Carlos Fernández del Castillo ◽  
Raul Gutiérrez ◽  
Fernando Larrea ◽  
Martha Medina ◽  
...  

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.


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 ◽  
...  

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.


1985 ◽  
Vol 108 (3) ◽  
pp. 421-427 ◽  
Author(s):  
S. Kofman-Alfaro ◽  
E. Valdés ◽  
J. Terá ◽  
S. S. Wachtel ◽  
B. Chávez ◽  
...  

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.


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 ◽  
...  

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.


2021 ◽  
Vol 10 (1) ◽  
pp. 45-47
Author(s):  
Anil Kumar Sah ◽  
Bipin Maharjan ◽  
Mahesh Bahadur Adhikari ◽  
Suman Baral ◽  
Mimi Giri

Disorder of Sexual Development (DSD) is a group of congenital conditions with atypical development of sex at chromosomal, gonadal or anatomic level. Genetic males with DSD (46 XY DSD) can present with female external genital phenotype, ambiguous, or a micropenis. It is caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. It results either from decreased synthesis of testosterone or DHT or from impairment of androgen action. Herein, we report a case of a 13-year child raised as female with hoarseness of voice and gradual enlargement of clitoris with hormonal assessment not suggestive of either 5 Alfa Reductase deficiency, Congenital Adrenal Insufficiency Syndrome or 17β-Hydroxysteroid Dehydrogenase deficiency


2021 ◽  
Vol 1 (1) ◽  
pp. 31-33
Author(s):  
Mehrbanoo Amirshahi ◽  
Fatemeh Mirshekari ◽  
Mahin Badakhsh

Author(s):  
Tejal Kansara ◽  
Tushar Shah ◽  
Yesha Umbharatwala

Authors report a case of a 6-year-old child with syndromic 46, XY disorder of sexual development. From the birth patient was assigned female. Physical examination showed dysmorphic features and ambiguous external genitalia. Cytogenetic analysis of cultured peripheral blood lymphocytes revealed a male karyotype. The result of the chromosomal investigation showing male genetic sex, together with the ambivalent aspect of the external genitalia and gonads that are exclusively testes led to the diagnosis of 46, XY disorder of sexual development. The clinical management will help the child and the family deal effectively with this condition A multidisciplinary approach to this problem involving pediatricians, specialists in the field of endocrinology, genetics, surgery and psychiatry is necessary in order to reach a prompt and correct diagnosis and treatment.


2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Vincenzo Mazza ◽  
Emma Bertucci ◽  
Silvia Latella ◽  
Carlotta Cani ◽  
Pierluca Ceccarelli ◽  
...  

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.


2020 ◽  
Vol 37 (1) ◽  
Author(s):  
Sarah Khan ◽  
Raafea Tafweez ◽  
Areiba Haider ◽  
Muhammad Yaqoob

Objective: To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD) Methods: This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex. Results: Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2). Conclusion: Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders. doi: https://doi.org/10.12669/pjms.37.1.2991 How to cite this:Khan S, Tafweez R, Haider A, Yaqoob M. Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan. Pak J Med Sci. 2021;37(1):244-249. doi: https://doi.org/10.12669/pjms.37.1.2991 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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