• Archives of Plastic Surgery
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• v.32 no.1
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• pp.110-116
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• 2005

Male pseudohermaphroditism is individuals with Y chromosome whose external appearances fail to develop as expected as a normal male. Cytogenetic form of male pseudohermaphroditism was 46XY but external genital forms were variable. We reviewed data from 7 patients with male pseudohermaphroditism operated in Dong-A University Hospital from January 1996 to August 2002. They all had severe form of hypospadias (pseudovaginal perineoscrotal type). Only 1 of 7 cases was operated urethroplasty by one stage method, and all others by two stage method. Patients with mild chordee were operated by one stage method and patients with severe chordee were operated by two stage method. Complete chordee release was done by Z-plasty or FTSG on the first stage and posterior urethroplasty was done at level of mid-dorsum of shaft at the same time. Anterior urethroplasty was done completely on the second stage. Results were good from the viewpoint of shape and urination. Urethral fistula occurred in two cases, but other complications (infection, urethral stricture, etc.) didn't occur. In conclusion, two stage method was compatible to correct hypospadias in male pseudohermaphroditism, because hypospadias in male pseudohermaphroditism is in severe form.

• Clinical and Experimental Reproductive Medicine
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• v.9 no.1_2
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• pp.79-93
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• 1982

We collected a total of 109 patients with intersex during the past 16 years (1966-1982). They were summerized as follows: Klinefelter's syndrome, the most common disease, was found in 76 cases, Turner's syndrome in 3 cases, true hermaphroditism in 5 cases, male pseudohermaphroditism in 5 cases, female pseudohermaphroditism in 13 cases and others in 7 cases in which 2 cases of XX male syndrome, 1 case of agonadism, 1 case of hernia uteri inguinale and 3 cases of unclassified intersex were included. 2 mosaic Klinefelter's syndrome showed 46/47 XX/XXY and 1 mosaic Turner's syndrome showed 45/46 XO/XX. The 5 patients with true hermaphroditism included 2 cases that had an ovary on one side and a testis on the other, 1 case, seperate ovary and testis on each side, 1 case, an ovary on one side and a seperate testis and ovary on the other and 1 case, an ovary on one side and an ovotestis on the other. Sex chromosome study on the true hermaphroditism revealed 46 XX in 2 patients and 46/46 XX/XY mosaicism in 3 patients. In male pseudohermaphroditism, all patients had a short and blind vagina. Of which, familial tendency was found in 1 case. Her sister had operation for sex reversal for female. In female psedohermaphroditism, all the patients were adrenogenital syndrome. Operations for clitoridectomy and vaginoplasty were performed on 10 patients. Hydrocortisone was given to 6 patients. Menstruation started to occur 6 months and 4 months after the medical therapy respectively in 2 cases.

• Korean Journal of Veterinary Research
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• v.45 no.3
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• pp.411-416
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• 2005

Hermaphroditism was discovered in four dogs at surgery. For the classification of the type of hermaphroditism in each case, gross morphological and histopathological studies were performed. Based on the histopathological studies, two dogs were diagnosed as unilateral true hermaphroditism because they had mixed gonad containing testis and ovary in unilateral gonad. Whereas two dogs were diagnosed as male pseudohermaphroditism because they had only testis and uterus that had endometrial atrophy. After resection, further follow-up of several months revealed no evidence of clinical abnormalities.

• Clinical and Experimental Reproductive Medicine
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• v.33 no.2
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• pp.133-138
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• 2006

Female phenotype of a 46,XY male may originates from male pseudohermaphroditism due to $17{\alpha}$-hydroxylase deficiency. Lack of cortisol increases adrenocorticotropic hormone (ACTH) and mineralocorticoid production, leading to low renin hypertention and hypokalemia. A 41-year-old phenotypic female presented primary amenorrhea and hypertension. In the hormonal profile, the levels of serum estradiol, testosterone, rennin, and cortisol were decreased and ACTH and deoxycorticosterone were increased. Laparoscopic bilateral gonadectomy was performed, and corticosteroid, antihypertensive drugs, and estrogen were administered. We report this case with a brief review of the literatures.

• Childhood Kidney Diseases
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• v.13 no.1
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• pp.84-91
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• 2009

We experienced a female neonate with congenital nephrotic syndrome (CNS) associated with congenital diaphragmatic hernia (CDH). Because of the rare combination of two conditions, we report this case with literature review. CDH was found immediately after birth and emergency operation was done for hernia repair. But on the next day, generalized edema and oliguria(0.59 mL/kg/hour) was found and her blood chemistry showed hypoalbuminemia (1.6 g/dL), increased BUN (27.7 mg/dL) and serum creatinine( 1.8 mg/dL) along with heavy proteinuria (4+). We started albumin infusion with a bolus of intravenous furosemide. We suspected the neonate had congenital nephrotic syndrome and her 24hr urine protein was 1,816 mg/day. In spite of immunosuppressive therapy, the nephrotic syndrome and renal failure progressed. We started peritoneal dialysis on the day of life 22 but it was not satisfactory. She was complicated by intracranial hemorrhage and multi-organ failure and expired at 34 days of age. Kidney necropsy was performed which showed diffuse mesangial sclerosis (DMS). Her chromosome study revealed 46, XX and her gene study revealed a heterozygous missense mutation, Arg366His, in Wilms tumor suppressor gene (WT1). This case deserves attention on account of the 4th case of CNS with CDH revealing the Arg366His mutation in the WT1 gene and G the 1st case of early onset renal failure without male pseudohermaphroditism and Wilms tumor with CNS, CDH and the Arg366His mutation in the WT1 gene. So, this report gives support to the hypothesis that Arg366His mutation in the WT1 gene can result in CNS and CDH.