A TRUE HERMAPHRODITE WITH SOME UNUSUAL FEATURES C . F. HEYNS, M .MED. M . L . S.
DE
KOCK, M .D .
C . J . C . DEALE, M .MED . From the Departments of Urology, and Obstetrics and Gynecology, Tygerberg Hospital and University of Stellenbosch, Tygerberg, South Africa
TRACT--A fifteen-month-old boy with ambiguous external genitalia was found to have a .S karyotype, an ovotestis in the right labioscrotal fold, and an absent left gonad . He also had a imentary uterus and fallopian tubes and a blind-ending vagina lined with squamous epithelium . '1e features are compared with those more commonly found in true hermaphroditism .
hetmaphroditism is a rare form of interDifferent combinations of ovarian and tesai tissue occurring in the same patient are Sin 90 percent, while other combinations uding an unknown or absent gonad) occur only 10 percent of true hermaphrodites .' We nt a patient with an ovotestis on the right 4 absence of the left gonad . Case Report "fifteen-month-old black child, born in li' :West Africa/Namibia, was referred bes&'of ambiguous external genitalia . His inisez assignment was male . n physical examination he was found to . e perineal hypospadias, a 4-cm long phallus tti?.severe chordee, and labioscrotal fusion ", ;LA), On the right a gonad was detected in neck of the hemiscrotum, but on the left no t was palpable . Ike plasma urea, creatinine, electrolytes, erfunction tests, testosterone, progesterone, ngen, luteinizing hormone, follicle-stimu!ng hormone, and prolactin were normal . eplasma cortisol was 932 nmol/L (normal 3-690 nmol/L) and the sex hormone binding bulin was 59 .7 nmol/L (normal male 46-54, ale 50-90 nmol/L) . Buccal smear examinaPLOGY
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MARCH 1990
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VOLUME XXXV, NUMBER 3
tion revealed the presence of Barr bodies in 52 percent of the cells . No fluorescent Y-chromosome (F-body) was found in twenty buccal cells examined . Chromosome analysis of ten cells from peripheral blood leukocyte cultures revealed a 46XX karyotype . Intravenous pyelography showed a bifid renal pelvis on the right, but the rest of the urinary tract was radiologically normal . Ultrasound examination of the lower abdomen did not reveal the presence of a uterus . Injection of contrast material through the perineal meatus demonstrated an infantile vagina opening in the urogenital sinus . The bladder appeared normal, and there was no vesicoureteric reflux on urinating . On cystoscopy the vagina was seen opening into the urogenital sinus just distal to the region of the external urethral sphincter, but the verumontanum was absent . At laparotomy, blood vessels were found passing through the internal inguinal ring to the gonad in the hemiscrotum on the right . Biopsy of this gonad, which had the appearance of a testis, confirmed the presence of solid tubular structures in a loose stroma, consistent with the features of a primitive testis . No spermatogonia were seen (Fig . 1B) . Inferior to the testis and fixed to it, was a small, hard structure with the
247
FIGURE 1 .
(A) External genitalia showing p e,'ifi hypospadias and chordee, with gonad (ovoteftis right labioscrotal fold . (B) Testicular cornpona,i right gonad, showing infantile tubular struitia and absence of spermatogonia as well as I,eg cells . (C) Ovarian component of right gonad, sl' ing numerous primordial follicles in ovarian s (original magnification x 150) .
appearance and consistency of ovarian tissue . This nodule was removed, and histology confirmed the presence of primordial follicles (Fig . 1C) . In the paratesticular tissue the presence of a tubular structure was suspected, but the histology of this area showed only fibrovascular connective tissue . On the left, gonadal vessels were seen coursing to the iliac fossa but not through the inguinal ring . Intra- and retroperitoneal exploration from the kidney to the labioscrotal fold on the left failed to reveal any gonadal tissue or remnant . In the midline a Y-shaped tubular structure was found and removed . The central cord, 4cm long, extended inferiorly behind the bladder in the region where the uterus would normally be situated . Histologically the inferior part of this structure consisted of a blind-ending vagina with unstriated muscle and nonkeratinizing squamous epithelium . The rest of the specimen showed only fibromuscular tissue, and no lumen could be demonstrated . The cord-like structure forming the arm of the Y on the right was 7-cm long and passed through the internal inguinal ring, while that on the left was 6-cm
248
long and extended to the internal inguinal r Histology revealed two tubular structures a fibromuscular wall lined with normal epithelium, compatible with the appearan fallopian tubes . No fimbriae were presents After removal of the ovarian tissue mi llerian remnants, the patient underwe constructive surgery to restore the ex 8 genitalia to a normal male appearance . 1} urethroplasty, the remnant of infantile v was excised, and histology showed a lin' keratinizing squamous epithelium . Comment Some of the features in our patient : l spond to those commonly found in true . maphroditism . A male phenotype oc curs 'l percent, with gender assignment being mk 75 percent, although the most common k type is 46X-X, occurring in 60 percent:,_ ovotestis is the most common gonad, c on;S A ing 44 percent of the gonads in a survey .,. cases of true hermaphroditism reporteu :u 1981 . 1 The ovotestis occurs on the right' f
UROLOGY
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MARCH 1990
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VOLUME XXXV, NoMk
rent of the cases, and in 80 percent the tesr and ovarian portions are arranged in an coia d-to-end fashion . The histology of the ovartissue is normal in 77 percent of the cases, bile, the testicular histology is usually abnoral spermatogenesis being present in only 12 ercent .' The uterus is abnormal in 90 percent, }tile the vagina is abnormal in 91 percent of Ie he rmaphrodites . 2 The duct found next to n ovotestis is a fallopian tube in 65 percent and vas deferens in 35 percent of the cases .' our patient also presents some unusual feaes . A hemiscrotum is found in only 13 perm t of true hermaphrodites, with descent of an otestis into the labioscrotal fold occurring in 5 percent .' The combination of an ovotestis kit an unknown or absent gonad occurs in rdy 10 percent of true hermaphrodites,' while streak gonad is extremely rare in these paiiints . 3.4 In the series of 27 true hermaphrodites cm South Africa reported by Van Niekerk, 2 pa uterus and especially the cervix were often mature, communicating with the vagina by :long narrow canal, which is contrary to the rerience of other experts in this field .' The Creme underdevelopment of the mullerian uotures in our patient is in agreement with be findings of Van Niekerk . he reason for the absence of the left gonad our patient remains speculative . The possible 1 eiilses of congenital anorchism (the so-called `vanishing testis") include a compromised .hood supply (torsion, hemorrhage, or trauma n the testis), or infection, toxin exposure, or minunologic damage in the fetal period .' ~' owever, the absent gonad in our patient is untkely to have been a testis . Complete absence of `he uterine horn is usually found on the side of a estis . Also, a vas deferens is usually induced by the presence of a testis, and the vas may be exiiected to remain even after the testis has been estroyed by torsion or some other mechanism .
DE
KOCK, M .D .
C . J . C . DEALE, M .MED . From the Departments of Urology, and Obstetrics and Gynecology, Tygerberg Hospital and University of Stellenbosch, Tygerberg, South Africa
TRACT--A fifteen-month-old boy with ambiguous external genitalia was found to have a .S karyotype, an ovotestis in the right labioscrotal fold, and an absent left gonad . He also had a imentary uterus and fallopian tubes and a blind-ending vagina lined with squamous epithelium . '1e features are compared with those more commonly found in true hermaphroditism .
hetmaphroditism is a rare form of interDifferent combinations of ovarian and tesai tissue occurring in the same patient are Sin 90 percent, while other combinations uding an unknown or absent gonad) occur only 10 percent of true hermaphrodites .' We nt a patient with an ovotestis on the right 4 absence of the left gonad . Case Report "fifteen-month-old black child, born in li' :West Africa/Namibia, was referred bes&'of ambiguous external genitalia . His inisez assignment was male . n physical examination he was found to . e perineal hypospadias, a 4-cm long phallus tti?.severe chordee, and labioscrotal fusion ", ;LA), On the right a gonad was detected in neck of the hemiscrotum, but on the left no t was palpable . Ike plasma urea, creatinine, electrolytes, erfunction tests, testosterone, progesterone, ngen, luteinizing hormone, follicle-stimu!ng hormone, and prolactin were normal . eplasma cortisol was 932 nmol/L (normal 3-690 nmol/L) and the sex hormone binding bulin was 59 .7 nmol/L (normal male 46-54, ale 50-90 nmol/L) . Buccal smear examinaPLOGY
1
MARCH 1990
.
VOLUME XXXV, NUMBER 3
tion revealed the presence of Barr bodies in 52 percent of the cells . No fluorescent Y-chromosome (F-body) was found in twenty buccal cells examined . Chromosome analysis of ten cells from peripheral blood leukocyte cultures revealed a 46XX karyotype . Intravenous pyelography showed a bifid renal pelvis on the right, but the rest of the urinary tract was radiologically normal . Ultrasound examination of the lower abdomen did not reveal the presence of a uterus . Injection of contrast material through the perineal meatus demonstrated an infantile vagina opening in the urogenital sinus . The bladder appeared normal, and there was no vesicoureteric reflux on urinating . On cystoscopy the vagina was seen opening into the urogenital sinus just distal to the region of the external urethral sphincter, but the verumontanum was absent . At laparotomy, blood vessels were found passing through the internal inguinal ring to the gonad in the hemiscrotum on the right . Biopsy of this gonad, which had the appearance of a testis, confirmed the presence of solid tubular structures in a loose stroma, consistent with the features of a primitive testis . No spermatogonia were seen (Fig . 1B) . Inferior to the testis and fixed to it, was a small, hard structure with the
247
FIGURE 1 .
(A) External genitalia showing p e,'ifi hypospadias and chordee, with gonad (ovoteftis right labioscrotal fold . (B) Testicular cornpona,i right gonad, showing infantile tubular struitia and absence of spermatogonia as well as I,eg cells . (C) Ovarian component of right gonad, sl' ing numerous primordial follicles in ovarian s (original magnification x 150) .
appearance and consistency of ovarian tissue . This nodule was removed, and histology confirmed the presence of primordial follicles (Fig . 1C) . In the paratesticular tissue the presence of a tubular structure was suspected, but the histology of this area showed only fibrovascular connective tissue . On the left, gonadal vessels were seen coursing to the iliac fossa but not through the inguinal ring . Intra- and retroperitoneal exploration from the kidney to the labioscrotal fold on the left failed to reveal any gonadal tissue or remnant . In the midline a Y-shaped tubular structure was found and removed . The central cord, 4cm long, extended inferiorly behind the bladder in the region where the uterus would normally be situated . Histologically the inferior part of this structure consisted of a blind-ending vagina with unstriated muscle and nonkeratinizing squamous epithelium . The rest of the specimen showed only fibromuscular tissue, and no lumen could be demonstrated . The cord-like structure forming the arm of the Y on the right was 7-cm long and passed through the internal inguinal ring, while that on the left was 6-cm
248
long and extended to the internal inguinal r Histology revealed two tubular structures a fibromuscular wall lined with normal epithelium, compatible with the appearan fallopian tubes . No fimbriae were presents After removal of the ovarian tissue mi llerian remnants, the patient underwe constructive surgery to restore the ex 8 genitalia to a normal male appearance . 1} urethroplasty, the remnant of infantile v was excised, and histology showed a lin' keratinizing squamous epithelium . Comment Some of the features in our patient : l spond to those commonly found in true . maphroditism . A male phenotype oc curs 'l percent, with gender assignment being mk 75 percent, although the most common k type is 46X-X, occurring in 60 percent:,_ ovotestis is the most common gonad, c on;S A ing 44 percent of the gonads in a survey .,. cases of true hermaphroditism reporteu :u 1981 . 1 The ovotestis occurs on the right' f
UROLOGY
l
MARCH 1990
:
VOLUME XXXV, NoMk
rent of the cases, and in 80 percent the tesr and ovarian portions are arranged in an coia d-to-end fashion . The histology of the ovartissue is normal in 77 percent of the cases, bile, the testicular histology is usually abnoral spermatogenesis being present in only 12 ercent .' The uterus is abnormal in 90 percent, }tile the vagina is abnormal in 91 percent of Ie he rmaphrodites . 2 The duct found next to n ovotestis is a fallopian tube in 65 percent and vas deferens in 35 percent of the cases .' our patient also presents some unusual feaes . A hemiscrotum is found in only 13 perm t of true hermaphrodites, with descent of an otestis into the labioscrotal fold occurring in 5 percent .' The combination of an ovotestis kit an unknown or absent gonad occurs in rdy 10 percent of true hermaphrodites,' while streak gonad is extremely rare in these paiiints . 3.4 In the series of 27 true hermaphrodites cm South Africa reported by Van Niekerk, 2 pa uterus and especially the cervix were often mature, communicating with the vagina by :long narrow canal, which is contrary to the rerience of other experts in this field .' The Creme underdevelopment of the mullerian uotures in our patient is in agreement with be findings of Van Niekerk . he reason for the absence of the left gonad our patient remains speculative . The possible 1 eiilses of congenital anorchism (the so-called `vanishing testis") include a compromised .hood supply (torsion, hemorrhage, or trauma n the testis), or infection, toxin exposure, or minunologic damage in the fetal period .' ~' owever, the absent gonad in our patient is untkely to have been a testis . Complete absence of `he uterine horn is usually found on the side of a estis . Also, a vas deferens is usually induced by the presence of a testis, and the vas may be exiiected to remain even after the testis has been estroyed by torsion or some other mechanism .
![[True hermaphrodite with ipsilateral vas deferens and intrascrotal ovary].](/assets/img/hold.png)
