phenotypic male
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2020 ◽  
Vol 14 (5) ◽  
pp. 155798832097007
Author(s):  
Akiyoshi Osaka ◽  
Hisamitsu Ide ◽  
Kentaro Matsuoka ◽  
Toshiyuki Iwahata ◽  
Yoshitomo Kobori ◽  
...  

The risk of a gonadal tumor is high in testicular disorder of sexual development (DSD) with the Y chromosome, but cases of DSD without the Y chromosome are extremely rare. We reported a gonadal tumor in a phenotypically male individual with 46, XX testicular DSD. A testicular tumor was incidentally found in a 32-year-old phenotypic male who was presented to the hospital with male infertility. A diagnosis of 46, XX testicular DSD was made by the presentation of karyotype analysis of 46, XX with the sex-determining region of the Y chromosome (SRY) positive and gonadal tissue without female gonads. Surgery was performed due to a gradually growing tumor. The partial orchidectomy was performed with the diagnosis of a benign Leydig cell tumor in frozen biopsy.


Author(s):  
M A Shehab ◽  
Tahseen Mahmood ◽  
M A Hasanat ◽  
Md Fariduddin ◽  
Nazmul Ahsan ◽  
...  

Summary Congenital adrenal hyperplasia (CAH) due to the three-beta-hydroxysteroid-dehydrogenase (3β-HSD) enzyme deficiency is a rare autosomal recessive disorder presenting with sexual precocity in a phenotypic male. Klinefelter syndrome (KS) is the most common sex chromosome aneuploidy presenting with hypergonadotropic hypogonadism in a male. However, only a handful of cases of mosaic KS have been described in the literature. The co-existence of mosaic KS with CAH due to 3β-HSD enzyme deficiency portrays a unique diagnostic paradox where features of gonadal androgen deficiency are masked by simultaneous adrenal androgen excess. Here, we report a 7-year-old phenotypic male boy who, at birth presented with ambiguous genitalia, probably a microphallus with penoscrotal hypospadias. Later on, he developed accelerated growth with advanced bone age, premature pubarche, phallic enlargement and hyperpigmentation. Biochemically, the patient was proven to have CAH due to 3β-HSD deficiency. However, the co-existence of bilateral cryptorchidism made us to consider the possibility of hypogonadism as well, and it was further explained by concurrent existence of mosaic KS (47,XXY/46,XX). He was started on glucocorticoid and mineralocorticoid replacement and underwent right-sided orchidopexy on a later date. He showed significant clinical and biochemical improvement on subsequent follow-up. However, the declining value of serum testosterone was accompanied by rising level of FSH thereby unmasking hypergonadotropic hypogonadism due to mosaic KS. In future, we are planning to place him on androgen replacement as well. Learning points: Ambiguous genitalia with subsequent development of sexual precocity in a phenotypic male points towards some unusual varieties of CAH. High level of serum testosterone, adrenal androgen, plasma ACTH and low basal cortisol are proof of CAH, whereas elevated level of 17-OH pregnenolone is biochemical marker of 3β-HSD enzyme deficiency. Final diagnosis can be obtained with sequencing of HSD3B2 gene showing various mutations. Presence of bilateral cryptorchidism in such a patient may be due to underlying hypogonadism. Karyotyping in such patient may rarely show mosaic KS (47,XXY/46,XX) and there might be unmasking of hypergonadotropic hypogonadism resulting from adrenal androgen suppression from glucocorticoid treatment.


2017 ◽  
Vol 26 (2) ◽  
pp. 107-109
Author(s):  
Karen J. Low ◽  
Sherif Abdel-Fattah ◽  
John Barton ◽  
Elizabeth C. Crowne ◽  
Mark Denbow ◽  
...  

2017 ◽  
Vol 10 (6) ◽  
Author(s):  
Wadah Khriesat ◽  
Zouhair Amarin ◽  
Mahammad Raqad ◽  
Asmaa Al Abbadi
Keyword(s):  

HORMONES ◽  
2012 ◽  
Vol 11 (3) ◽  
pp. 361-367 ◽  
Author(s):  
Sophia Kitsiou-Tzeli ◽  
Maria Deligiorgi ◽  
Sophia Malaktari-Skarantavou ◽  
Charalampos Vlachopoulos ◽  
Spyridon Megremis ◽  
...  

2012 ◽  
Vol 172 (1) ◽  
pp. 127-129 ◽  
Author(s):  
Yonghui Yang ◽  
Dongning Feng ◽  
Jun Huang ◽  
Xiaojing Nie ◽  
Zihua Yu

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