Rudimentary testes syndrome revisited

Sixteen children who were one day to 9 years of age underwent clinical, anatomic, and hormonal study because of extreme hypoplasia of the phallus and small testes associated with normal 46XY male karyotype. Two of them were first cousins. All patients had Leydig cell deficiency. Among 15 patients who received luteinizing hormone-releasing hormone stimulation during childhood, 11 had an exaggerated response of either one or both gonadotropins. Bilateral biopsy, performed in eight patients, showed a clearly testicular structure with either scant or incompletely differentiated tubules. These characteristics allow clear differentiation from chromosomal abnormalities and malformation syndromes. It is more difficult to differentiate between rudimentary testes and primary gonadotropic deficiencies and may not be possible until the child has reached adolescence. The syndrome of rudimentary testes may be a manifestation of XY primary gonadal dysplasia, along with pure XY gonadal dysgenesis, XY hermaphroditism, XY mixed gonadal dysgenesis, and congenital anorchia, probably resulting from fetal regression of the testes. The observed familial occurrence of the syndrome of rudimentary testes, as well as of XY gonadal dysgenesis, leads to speculation about the possibility of X-linked transmission.     

Persistent müllerian duct syndrome with transverse testicular ectopia

A patient with the combined anomalies of persistent müllerian ducts and testicular ectopia presented with a right inguinal hernia. He represents the 14th case to be documented outside Japan. A review of the literature on persistent müllerian duct syndrome has permitted a new classification of the anatomical variants to be determined. It is proposed that the testes have prolapsed into the hernial sac rather than descending in the normal way. Furthermore, the high frequency of transverse ectopia in patients with persistent müllerian ducts may be caused by the absence of round ligaments to immobilize the genital tract.     

Persistent müllerian duct associated with transverse testicular ectopia

A rudimentary uterus and Fallopian tubes, persistent Müllerian duct syndrome (PMDS), associated with transverse testicular ectopia (TTE) was found in a phenotypically normal boy with 46, XY karyotype who presented with bilateral undescended testes. Catheterization of the uterus confirmed its connection to the urethra. Because of the close vicinity of the rudimentary uterus to the vas deferens and bladder neck in PMDS, in spite of infertility in the majority of these patients, hysterectomy should be avoided to prevent iatrogenic damage to the vas and bladder neck. In TTE associated with bilateral and sometimes unilateral maldescent, abdominal exploration may be justified to exclude the possibility of PMDS and to facilitate orchiopexy.     

47,XYY karyotype and normal SRY in a patient with a female phenotype.

A rare case of a female patient with a 47,XYY karyotype is described. She had normal female external genitalia, bilateral testes, rudimentary Fallopian tubes and no uterus. Molecular analysis revealed a normal SRY encoding sequence. The possible events in the etiology of this sex reversal entity are discussed.     

Gonadoblastoma: unusual presentation in a patient lacking persistent müllerian ducts

We report a patient with a disorder of sexual differentiation who presented with a 46,XY karyotype, absent internal Müllerian ducts, a vaginal pouch, hypospadias, and bilateral cryptorchidism with a gonadoblastoma in one testis. A human chorionic gonadotropin stimulation test and tissue 5-alpha-reductase and androgen receptor assays were normal. Except for the absence of internal Müllerian ducts, this patient most closely resembles the disorder of dysgenetic male pseudohermaphroditism (DMP). On this basis, we hypothesize that the internal Müllerian ducts in DMP may manifest anywhere along a spectrum that extends from normal to complete absence of structures depending on the degree of gonadal dysgenesis. This case also illustrates the importance of testicular biopsy in patients with dysgenetic testes because of the high likelihood of germ cell neoplasms in these gonads.     

Surgical management of enlarged prostatic utricle

 The prostatic utricle (PU), or prostatic pouch, is a rudimentary structure present in the male prostatic urethra, and is derived from both the müllerian and wollfian ducts. As the PU is of mixed origin, a patient with an enlarged utricle should be carefully examined to ascertain whether it is associated with female internal organs. The clinical presentation, diagnostic evaluation, and a new surgical approach, posterior sagittal rectum retracting, are discussed. A plan for management of PU with proximal hypospadias is suggested. Accepted: 12 July 1999     

A hypothesis to explain abnormal gonadal descent in persistent müllerian duct syndrome

Observations on the anatomy of patients with persistent müllerian duct syndrome (PMDS) shed considerable light on the causation of testicular descent. We present a hypothesis that explains the complex anatomical variants seen in this syndrome. The main anomaly (apart from persisting müllerian ducts) is failure of the gubernaculum to be masculinised, so that it remains long and thin, analogous to the round ligament. The mobility this gives the undescended testes accounts for apparent descent in some children, in whom the mobile testes have herniated into a patent processus vaginalis. Lack of gubernacular swelling in this syndrome supports a role for müllerian inhibiting substance or anti-müllerian hormone in the first phase of testicular descent. Correspondence to: J. M. Hutson     

Incidence of cryptorchidism and ascending testes in Trisomy 21: a 10 year retrospective review

Children with Down syndrome have an increased risk of cryptorchidism, but the reported incidence is unclear. In a proportion of these children, the testes are within the scrotum at birth but later appear to have ascended to an ectopic position. Records of patients diagnosed with trisomy 21 who had surgery for undescended testes in two tertiary paediatric centres over a 10-year period were examined. Information on liveborn males with Down syndrome was obtained from the Victorian Genetic Registry, and then the incidence of congenital and acquired undescended testes was determined. The incidence of undescended testes in Down syndrome was found to be 6.52% (24/368), with 4.35% (16/368) being acquired undescended or ascending testes. In conclusion, there is an increased incidence of cryptorchidism in Down syndrome; in particular, there is a significant proportion of acquired undescended testes.     

Sigmoid colon vaginoplasty in children.

BACKGROUND: Vaginal construction is necessary for the patients with aplasia of Mullerian ducts, testicular feminisation and androgen insensitivity syndromes. Many methods of vaginal construction have been described. We report here the outcomes of six adolescent patients who underwent sigmoid colon vaginoplasty with special emphasis on the surgical technique and outcomes. PATIENTS AND METHODS: Between 1990 and 2003, six patients underwent sigmoid vaginoplasty after a diagnosis of 5alpha-reductase deficiency (n = 3), testicular feminisation (n = 2) or vaginal atresia (n = 1). The mean age was 16 years (13 to 18). Wide spectrum antibiotics and whole-gut preparation were used in all cases. A 15-20 cm segment of sigmoid colon was pulled through the retrovesical tunnel. The proximal end was closed in two layers in patients with 5alpha-reductase deficiency and with testicular feminisation. A distal anastomosis was carried out to the opening made on the vaginal plate (5alpha-reductase deficiency) or on the tip of the shallow rudimentary vagina (testicular feminisation). The sigmoid segment was interposed between the blind end of the atretic vagina and the perineum in the patient with vaginal atresia. Patients were instructed to perform daily vaginal irrigation. The neovagina was examined and calibrated under anaesthesia. No routine vaginal dilatation was recommended. RESULTS: All but one patient had an uneventful postoperative period and were discharged within 7-8 days. All patients had an excellent cosmetic result with an appropriate vaginal length. One of the patients experienced late stenosis of the introitus which responded to dilatations. Mucus discharge was not a significant problem. The patient with vaginal atresia (Bardet-Biedl syndrome) experienced deep vein thrombosis, renal failure and sepsis, resulting in death. CONCLUSION: Sigmoid colon vaginoplasty is a special procedure which appears appropriate for the construction of a new vagina in children. A sigmoid colon neovagina meets all necessary criteria after a vaginoplasty. It provides an adequate diameter and length, and produces less scar tissue in the perineum. It is self-moistening, easily adaptable to the uterus, cervix and rudimentary atretic vaginal segments and does not require routine dilatation. Mild stenosis of the introitus can be treated by dilatations and revision can be easily performed in severely stenotic cases. On the other hand, the patient may face morbidity after laparotomy and other serious complications may occur due to accompanying diseases.     

The role of laparoscopy in the management of impalpable testes

Both diagnostic and operative laparoscopy were used in the management of 68 impalpable testes. Twenty-three were either vanishing or atrophied, and were associated with a precarious blood supply. Two were found in the groin, 12 in the inguinal canal, and 32 at variable distances from the internal ring; of these, 2 were in a patient with persistent müllerian duct syndrome. Two atrophied abdominal testes were removed laparoscopically, 3 patients underwent a two-stage Fowler-Stephens procedure, and 28 underwent one-stage, laparoscopically assisted orchidopexy. An algorithm for surgical management of the impalpable testis based on laparoscopic findings is proposed.     

Testicular degeneration in three patients with the persistent müllerian duct syndrome

The presistent Müllerian duct syndrome, characterized by the presence of uterus and tubes in males, is a familial disorder due to defects of synthesis or action of anti-Müllerian hormone, a Sertoli cell glycoprotein responsible for the regression of Müllerian derivatives in normal male fetuses. Patients are normally virilized and testicular production of testosterone is normal. Both testes my be cryptorchild; alternatively, one may be descended into the inguinal canal or scrotum, together with the Müllerian derivatives, a condition known as hernia uteri inguinalis. We have recently observed three patients affected by the presistent Müllerian duct syndrome who experienced progressive degeneration of testicular tissue. In two, functional testicular tissue was still present some months after birth, but deteriortated progressively later. In one patient, testicular tissue was already absent at birth, but the normal virilization of external genitalia indicated that testicular degeneration must have occurred lat during fetal life, after the expected time of regression of male Müllerian ducts.Conclusion The high incidence of degeneration of testicular tissue in the presistent Müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression.     

Robinow or “fetal face syndrome” in a male infant with ambiguous genitalia and androgen receptor deficiency

Typical features of the fetal face or Robinow syndrome are reported in a male infant who presented with ambiguous genitalia and persistence of the Mullerian ducts. Histology of the testes was normal whereas endocrinological studies showed partial deficiency of androgen receptors.Dedicated to Professor Dr. K. Stehr on the occasion of his 60th birthday     

Epididymal and vasal abnormalities in undescended testes and azoospermia

Epididymal and vasal abnormalities (EVA) have long been known to be associated with cryptorchidism. In order to provide data concerning the incidence of EVA in undescended testicles, we operatively examined the anatomic relationship of the epididymis, vas, and testis in 456 cryptorchid patients (390 unilateral and 66 bilateral, over-all 522 undescended testes). As a control group we examined 50 adults postmortem and 96 pediatric patients operated upon for inguinal hernia or hydrocele. We divided the operative findings into two groups: simple variants of normal, and forms of complete anatomic disconnection of the spermatic ducts.We were unable to find any anatomic disconnection in either control group. In contrast, in 99 of the 522 maldescended testes operated upon (19%) we found some form of anatomic disconnection along the proximal spermatic ducts. The incidence was 17% in unilateral cryptorchidism and 26% in bilateral cases, in 16% of whom the EVA was bilateral. According to the literature and our previous study, azoospermia is present in about 18%–20% of adults operated upon for bilateral cryptorchidism. Our present study may suggest that in bilateral cryptorchid patients who were operated upon in the pediatric age range, the azoospermia in adulthood could be partially related to some form of bilateral occlusion or interruption of the spermatic ducts. Correspondence to: G. Belloli     

Pseudohermaphroditis, with testes and a 46, XX karyotype.

A 14 4/12-year-old white girl, evaluated for progressive virilization and clitormegaly, was found to have the unusual combination of a 46, XX karyotype, well-developed Mullerian structures, and dysgenetic testes with Leydig cell hyperplasia. Although there have been previous case reports of 46, XX males, in all of these patients development of the Mullerian ducts had been suppressed. When contemporary classifications of human disorders of sexual differentation were reviewed, no report of a similar patient was found. We speculate that the genotype and phenotype in our patient correspond to the genetic intersexuality of the hornless goat, thereby raising the possibility that the human autosome may play a role in the control of sexual development.     

Lower genitourinary tract anomalies in a male with Down syndrome

A patient with Down syndrome is presented who had hypospadias, a large low implanted prostatic utricle, and refluxing ejaculatory ducts entering the utricle.     

Central precocious puberty in 48,XXYY Klinefelter syndrome variant

We report the first case of central precocious puberty in a patient with 48,XXYY Klinefelter syndrome variant. We also report clinical characteristics, growth pattern, endocrine data and pathological testicular findings. The patient did not receive medical care for his precocious pubertal development, because of adequate height prognosis, and reached normal height for both his target height and Klinefelter patients. Since precocious puberty seems to occur in Klinefelter syndrome and its variants, we advise karyotype analysis in boys with mental retardation, gynecomastia, small testes and precocious onset of puberty.     

Clinical Significance of Thrombosis in an Intracardiac Blind Pouch After a Fontan Operation

The univentricular heart after the Fontan operation may have a blind pouch formed by the pulmonary stump or rudimentary ventricle according to the anatomy before surgery. Thrombosis in an intracardiac blind pouch of patients with a univentricular heart is a hazardous complication. Because only a few reports have described this complication, the authors evaluated the clinical significance of thrombosis in an intracardiac blind pouch of a univentricular heart. They performed a retrospective review of medical records from August 1986 to December 2007. Four patients were confirmed as having thrombosis in a pulmonary artery stump and one patient as having thrombosis in a rudimentary ventricle shown by cardiac computed tomography (CT). This represents 1.85% (5/271) of patients with ongoing regular follow-up evaluation after the Fontan operation. The median age at diagnosis was 14.2 years. Two of the five patients were taking aspirin and one patient was taking warfarin when they were identified for the development of thrombosis. None of the patients demonstrated thrombosis in the Fontan tract or venous side of the circulation. Brain magnetic resonance imaging (MRI) showed that three patients had cerebral infarction and one patient had suggestive old ischemia. Three patients with thrombus in the pulmonary stump underwent pulmonary artery stump thrombectomy and pulmonary valve obliteration. One patient with thrombus in the rudimentary ventricle underwent ventricular septal defect (VSD) closure with thrombectomy. Thrombus in a blind pouch could cause systemic thromboembolism despite little blood communication. Therefore, surgical modification of the pulmonary stump and VSD closure of the rudimentary ventricle are required to reduce the risk of later thrombus formation. Clinicians should not overlook the possibility of thrombus in a ligated pulmonary artery stump or a rudimentary ventricle after the Fontan operation, which may increase the risk of embolic stroke for patients with single-ventricle physiology.     

A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome

An 11 month old boy with hypospadias and bilateral undescended testes developed renal failure. Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified. Direct sequencing analysis of genomic DNA from this patient revealed a G to A transition resulting in ³⁶⁶Arg to Leu substitution in exon 8 which has hitherto not been described. This newly identified mutation will help in the understanding of functional domains and in making a diagnosis of Denys-Drash syndrome.     

A novel mutation in the anti-müllerian hormone gene as cause of persistent müllerian duct syndrome

Persistent müllerian duct syndrome is a relatively rare inherited defect of sexual differentiation characterised by failure of regression of the müllerian ducts in males. In affected individuals, uterus and tubes are present because of defects of synthesis or action of anti-müllerian hormone (AMH), normally produced by the Sertoli cells of the testis. Patients are normally virilised, although mono- or bilateral cryptorchidism may be present. We observed two brothers (chromosomes 46 XY), aged 11 years and 2 months and 8 years and 3 months respectively, with bilateral cryptorchidism. The diagnosis of persistent müllerian duct syndrome was made on the basis of laparoscopic evidence of uterus and tubes, undetectable plasma levels of AMH and a 23 base pair duplicative insertion in exon 5 of the AMH gene, causing the introduction of a premature stop codon, homozygous in the two brothers. The surgical correction of the genital abnormalities was successfully carried out by laparoscopic orchidopexy according to Fowler-Stephens. CONCLUSION: Persistent müllerian duct syndrome should be taken into consideration in all cases of bilateral cryptorchidism. Laparoscopy is the elective procedure for diagnosis of this disease and laparoscopic surgery for orchidopexy of intra-abdominal testes. Mutation analysis of the anti-müllerian hormone gene in these patients helps to understand the structure-function relationship of the anti-müllerian hormone protein, although it is not clear at present whether anti-müllerian hormone is necessary to maintain normal testicular function.     

Groin and scrotal swellings in children aged 5 years and below: a review of 535 cases

There is limited literature dedicated to the surgical problems of infants and childhood, especially diseases of the groin and scrotum, in the setting of sub-Saharan Africa. We do not know the morbidity and mortality rates associated with surgical conditions of the groin and scrotum in children of our sub-region. This study was carried out among children aged 5 years and below in a regional referral hospital in Kumasi, Ghana, to determine the surgical conditions of the groin and scrotum treated at elective surgery. Inguinal hernias constituted 74% of the children with groin and scrotal diseases; this was followed by hydroceles - 14.2%; then undescended testis - 10.5%; and inguinal lymphadenopathy - 0.7%. The rest were testicular abscess, seminoma and cystic lymphangioma, representing 0.2% each of groin and scrotal conditions treated in this hospital among this age group. The last three are rare conditions of the groin and scrotum as shown by our data. The recurrence rate after herniotomy was 0.7%. Orchidopexy was successfully performed in 89% of children with undescended testes; in 7.1% of cases, orchidectomy was carried out for rudimentary and small, dysplastic testes. Over 98% of the children with groin and scrotal surgical problems were treated on day-care basis. There were no recorded deaths in the series.