Male pseudohermaphroditism with os clitoris in three dogs

Two American Cocker Spaniels and one Bichon Frise were presented to our veterinary teaching hospital with an enlarged clitoris. Diagnostic imaging showed that the structure was composed of bony material. Exploratory laparotomy revealed uterine-like structures and testes which had an epididymis unilaterally. Surgical removal of internal genitalia, gonads and protruded clitoris were performed well. Histological evaluation revealed; inactive testes, female internal genital tracts with ambisexual ductal remnants, and prominent ossification in the clitoris. All 3 cases were diagnosed with male pseudohermaphroditism. In author's knowledge, this is the first report in Bichon Frise dog with os clitoris and also, it describes not common cases in small dog breeds with os clitoris.

Clinical characteristics and genetic analysis in two patients with 3β-hydroxysteroid dehydrogenase deficiency / 中华内分泌代谢杂志

Objective To analyze the clinical characteristics of two patients with 3β-hydroxysteroid dehydrogenase deficiency and to explore their molecular genetic defects.Methods The clinical features and laboratory data of two patients were collected.The exons of HSD3B2 gene were amplified by PCR and sequenced by Sanger sequencing.Results Patient 1, aged 5 yrs old, was raised as a girl with 46, XY karyotype, presented with hyperpigmentation, female infant vulva, clitoral hypertrophy, and bilateral cryptorchidism;Patient 2, aged 11 yrs old, was raised as a girl at birth but as a boy after 1 yr old for known 46, XY karyotype, presented with hyperpigmentation, micropenis and severe hypospadias.Both patients had markedly elevated adrenocorticotropin and decreased cortisol.Two homozygous missense mutations in HSD3B2 gene were identified:conversions of codon Pro155 toLeu(p.P155L)inpatient1,andcodonAla82toThr(p.A82T)inpatient2,bothofwhichwerereportedforthe first time in China.Conclusion The patients with 3β-hydroxysteroid dehydrogenase deficiency in 46,XY karyotype mainly present with male pseudohermaphroditism and adrenocortical deficiency, and the diagnosis should rely on the steroids detection and HSD3B2 gene screening.

Acute urinary retention caused by seminoma in a case of persistent Mullerian duct syndrome.

Urinary symptoms have been described secondary to a pelvic mass originating from the ovary, uterus, cervix, prostate, or rectum. Persistent Mullerian duct syndrome is a rare form of intersex disorder, characterized by the presence of uterus and fallopian tubes in an otherwise 46 XY male. We report an adult male with bilateral cryptorchidism and a pelvic mass, who presented with acute urinary retention, and was diagnosed with a seminoma of the right testis, intratubular germ cell neoplasia of the left testis with the presence of Mullerian remnants. Pelvic mass was caused due to seminoma is a rare cause of urinary retention.

Persistent mullerian duct syndrome.

Persistent mullerian duct syndrome is a rare form of internal male pseudohermaphroditism in which mullerian duct derivatives are present in a genotypic (46XY) and phenotypic male. We report a rare case of persistent mullerian duct syndrome in an adult fertile male in whom mullerian duct derivatives (uterus and fallopian tubes) were found in the right hernia sac at herniotomy.

Study on a pedigree with Leydig cell hypoplasia caused by novel mutation of luteinizing hormone receptor / 中华内分泌代谢杂志

Objective To investigate a Chinese pedigree suffering from Leydig cell hypoplasia ( LCH) based on clinical data and genetic diagnosis. Methods The patient was diagnosed by means of clinical data, hormone profiles, and human chorionic gonadotropin ( hCC) test. The luteinizing hormone/chorionic gonadotropin receptor(LHCGR) gene of the patient and family members was amplified and sequenced. Results The patient presented with male pseudohermaphroditism, low level of testosterone, which did not respond to hCG. Genetic analysis of the LHCGR revealed two novel mutations: a missense mutation located in exon 5, resulting in Ile replaced by Thr in the extracellular domain; and a splice site mutation in the 3' terminal of intron 6( IVS6-3 C→A). Proband's sister (46, XX) who lacked clinical manifestations showed the identical genotype with the patient. Conclusions A mutation in the consensus sequence of 3' splice site, in addition to a missense mutation (Ile 152Thr)in the extracellular ligand-binding domain is the cause of inactivation of the LHCGR gene in patient with Leydig cell hypoplasia.

Male pseudohermaphroditism due to 17β-hydroxysteroid dehydrogenase 3 deficiency / 中华内分泌代谢杂志

Objective To investigate the clinical and genetic characteristics in a patient with 17β-hydroxy-steroid dehydrogenase (17β-HSD) 3 deficiency, regarding its pathophysiology and pathogenesis. Methods Clinical features and laboratory data were analyzed in a pedigree of 17β-HSD3 deficiency. Blood samples from the patient and his parents were collected. HSD17B3 gene was screened for mutations by PCR and subclone sequencing. Results The patient presented with pubertal virilization and gynecomastia. The physical examination showed female external genitalia and testes in inguinal canals. The chromosome karyotype was 46, XY. Serum FSH, LH, dehydroepiandrosterone sulfate, androstenedione and 17-OH-progesterone levels were raised, whereas plasma testosterone was lowered. Sequencing analysis revealed 4 nucleotide deletion (172-175del) of HSD17B3 gene. Conclusion Virilization and gynecomastia in puberty suggest the probability of 17β-HSD deficiency. It may be verified clinically by hCG-stimulating test and confirmed by gene diagnosis.

Etiology analysis of male pseudohermaphroditism / 中华泌尿外科杂志

Objective To discuss the etiology of male pseudohermaphroditism. Methods The clinical data of 42 male pseudohermaphroditisms were retrospectively analyzed.Among the 42 cases (mean age of 10 years,range from 8 to 19 years),39 caseg social gender were female sex and 3 were male.Physical examination indicated abnormal external genitalia,cryptorchidism,hypospadias and mass of pelvis or inguinal.Chromosome examination showed that 39 cases were 46,XY,2 cases of 45,X/46.XY and 1 case of 45,X/47,XXY.Etiology analyses were established in 42 cases by eytogeneties,endocrinology,B-ultrasound or CT examination,celiac exploration and pathology examination.Results All the 42 cases received operation.All cases were treated by hormone replacement according to the social gender which they selected.Thirty-three cases were followed up for 7 to 10 years. Conclmion The etiology of male pseudohermaphroditism includes anti-androgen syndrome,testosterone synthetase deficiency,resistant LH/hCG by testis,simple gonadal dysgenesis,mixed gonadal dysgenesis and resistant mullerian duct syndrome.

A case of 5 alpha reductase deficiency / 대한산부인과학회지

5 alpha-reductase deficiency is a rare autosomal recessive disorder caused by mutations in the SRD5A2-gene, resulting in absent or diminished dihydrotestosterone (DHT) formation and, hence, in an underdevelopment of the external genitalia in patients with 46,XY karyotype. Recently we experienced a 17 years old patient with chief complaint of primary amenorrhea, who showed 46,XY karyotype, enlarged clitoris, virilization, undeveloped breast and palpable bilateral inguinal mass. We diagnosed it as 5 alpha?reductase deficiency and removed the bilateral gonads, so we report it with brief review of literature.

Steroid 5?-reductase and 5?-reductase type 2 deficiency / 基础医学与临床

Two types of steroid 5?-reductase isozymes were found in human and rats.5?-reductase type 2 deficiency in male lead to male pseudohermaphroditism and other related phenotypes.The content of this review includes:① The progress in the fields of 5?-reductase research;②Biochemical characteristics and physiological effects of 5?-reductase.③ Gene structure and mutation in 5?-reductase genes,clinical and chemical features of 5?-reductase type 2 deficiency syndrome.④Inhibitory agents of 5?-reductase and their mechanism and clinical use.The investigation in 5?-reductase help to illuminate physiological effect and sexual differentiation of androgen.The development of new inhibitory agents for 5?-reductase creats new strategy for diseases caused by imbalance of androgen action.Their mechanism and long effects of clinical use need further investigation and observation.

A Case of Male Pseudohermaphroditism due to 17alpha-Hydroxylase Deficiency / 대한불임학회지

Female phenotype of a 46,XY male may originates from male pseudohermaphroditism due to 17alpha-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.

Urethroplasty in Male Pseudohermaphroditism

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.

A Case of Male-Pseudohermaphroditism due to 17-beta-hydroxysteroid Dehydrogenase Deficiency with Multiple Osteoporosis / 대한산부인과학회잡지

A 37-year-old woman was admitted for chief complaints about primary amenorrhea and multiple bone pains. She was raised phenotypically female but her chromosomal study was no-rmal male karyotype(46 XY). On pelvic examination, she showed relatively normal female ex-ternal genitalia except short blind-ending vagina. There were also no uterus and tubes in operation field. Even though rare disorder, she was diagnosed male pseudohermaphroditism due to 17-beta -hydroxysteroid dehydrogenase deficiency. This disorder is the most common enzyme defect in biosynthesis of testosterone and involves the last step. The serum level of sex steroid: test osterone, estradiol were decreased and FSH, LH were increased. Androstenedione was increased and we could obtain that Androstenedione / Testosterone ratio was increased. Because of 17-beta-HSD deficiency, estrogen was not converted to estradiol, and so estradiol was markedly decreased. Same as above, we experienced a case of male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency with multiple osteoporosis. So we report this case with a brief review of literatures.

A case of male Pseudohermaphroditism due to 17alpha-Hydroxylase Deficiency / 대한산부인과학회잡지

A 21-year-old phenotypic female with 46,XY genotype presented with primary amenorrhea, headache, absence of secondary sex characteristics, and hypertension.Further evaluation confirmed male pseudohermaphroditism having no nterus and adnexase.After basic hormonal study and ACTH stimulation test, we concluded 17alpha-hydroxylase deficiency. Owing to the high risk of gonadal neoplasia in XY gonadal streaks, prophylactic removal of the steaks is recommended. Traditionally this procedure has been performed by laparotomy, but in this case laparoscopic gonadctomy was performed. Following treatment with hydrocrtisone, potassium, progesterone, 11-deoxycorticosterone, corticosterone and urinay pregnanediol levels were normalized. normal blood pressure measurements were achieved during treatment with hydrocortisone and estrogen with the patient. We report this case with a breif review of the literatures.

A Case of Dysgenetic Male Pseudohermaphroditism Associated with Dicentric Y Isochromosome / 대한비뇨기과학회지

Dysgenetic male pseudohermaphroditism associated with a chromosomal abnormality is a disorder of sexual differentiation resulting from a defect in normal testicular differentiation during embryogenesis. Patients with this disorder present with bilateral dysgenetic testes, persistent internal Mullerian duct structures, cryptorchidism and ambiguous genitalia. Herein a case of male pseudohermaphroditism with bilateral dysgenetic testes and dicentric Y isochromosome (46, X, i (Yq) ) is presented with brief review of literatures.

A Case of Scrotal Reconstruction in Male Pseudohermaphroditism Using Skin Flap and Silicone Prosthesis / 대한비뇨기과학회지

A technique is described for reconstructing the scrotum in patient who was diagnosed as male pseudohermaphroditism. Scrotal reconstruction with skin flap and silicone prosthesis was done in 3-year old child and had acceptable cosmetic result. Herein we present a case of scrotal reconstruction with some literature.

Clinical Experience of Male Pseudohermaphroditism / 대한비뇨기과학회지

Although the definition of male pseudohermaphroditism remains controversial, male pseudohermaphrodites will be defined as chromatin-negative individuals who have testis with the failure of normal development of the normal male. Also included are those individuals who may have more than one cell line, but at least one cell line, containing a Y chromosome and no cell line having two X chromosomes. Gonadal histologic findings may be either testicular or streak, but not ovarian. Male pseudohermaphroditism can result as a consequence of 1) absent M(llerian regression, 2) Inadequate synthesis of testosterone, 3) inadequate synthesis of dihydrotestosterone and 4) androgen receptor deficiency. We have seen 5 cases of male pseudohermaphroditism with manifestations of penoscrotal or perineal hypospadias, pubertal virilization, cryptorchism or atrophied testes, and feminization. Four cases had been reared as male and one case as female. All revealed chromatin-negative pattern in buccal smear and testes. After the plausible discussion, two cases were decided to be reared as female and three were as male.

A Study of Intersex

Intersex is the state of having ambiguous or inappropriate genitalia due to abnormalities of normal mechanisms for sexual development. Three broad subcategories of intersex have been defined according to the histology of the gonad: Female & male pseudohermaphroditism and true hermaphroditism. Twenty two cases of intersex are described. Among them, true hermaphroditism was 7 cas-es, female pseudohermaphroditism 10 cases and male pseudohermaphroditism 5 cases. The presenting symptoms, age of diagnosis, gender role, histologic findings of gonad & tre-atment are discussed. Review of literature and reference on intersex was attempted briefly.