Normal pelvic ultrasound or MRI does not rule out neoplasm in patients with gonadal dysgenesis and Y chromosome material.

INTRODUCTION: Patients with gonadal dysgenesis (GD) with a Y chromosome have an increased risk of gonadal neoplasm. Few data exist on the ability of imaging to detect malignancy in intra-abdominal gonads in these patients. OBJECTIVE: We aimed to determine the correlation between preoperative imaging findings and gonadal pathology in GD patients with Y chromosome material. METHODS: A retrospective review was performed of patients with XY or XO/XY GD who underwent gonadectomy at our institution from 2003 to 2017. Patients were assessed preoperatively with ultrasonography; some additionally underwent MRI. RESULTS: The series consisted of 10 patients, all with female gender and non-palpable gonads. Median age was 13.1 years (range 2.4-18.3 years). Overall, four of the ten patients (40%) had a tumor (gonadoblastoma or dysgerminoma) on final pathology. Four patients had a gonad or gonads that were definitively seen on ultrasonography. All visualized gonads were described as "normal" or "small" with the exception of one patient, who had a normal MRI. Three of the four patients in this group had a tumor on final pathology. The remaining six patients had a gonad or gonads that were not definitively visualized on ultrasound; one patient in this group had a tumor on final pathology. Overall, five of seven gonads (71%) definitively visualized on ultrasound had tumor on final pathology, and two of thirteen gonads (15%) not visualized on ultrasound had tumor on final pathology; this difference was statistically significant (p = 0.012). Three patients were imaged with MRI. Of the gonads that could be visualized on MRI, no definitive abnormalities were seen. All patients imaged with MRI had tumors on final pathology. DISCUSSION: Both ultrasound and MRI are relatively poor at identifying and characterizing intra-abdominal gonads in GD patients. The majority of patients who had a neoplasm had normal imaging findings. Gonads that were definitively visualized on ultrasound were more likely to contain neoplasms that could not be visualized, which perhaps because of tumor growth. No other consistent imaging findings of malignancy were found. Our study included ultrasound evaluations that were completed over 10 years ago and not performed by pediatric ultrasonographers, which may have biased the results. However, results suggest that when discussing gonadectomy with GD patients, one should not be reassured by "normal" imaging findings. Neither ultrasound nor MRI should be relied on for surveillance in GD patients who decide against gonadectomy. CONCLUSION: A normal ultrasound or MRI does not rule out neoplasm in GD patients with intra-abdominal gonads.

Unilateral ovarian absence in a Black-headed Squirrel Monkey (Saimiri vanzolinii Ayres, 1985), a threatened neotropical primate species.

Ovarian agenesis is an unusual anomaly with traumatic or congenital origin. In the present case report, we describe our findings in a senile S. vanzolinii female. As this neotropical primate species is listed as vulnerable, with limited geographic distribution in the Brazilian Amazonia, ovarian agenesis may be an important finding to be reported.

A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.

Context: Primary ovarian insufficiency (POI) is caused by ovarian follicle depletion or follicle dysfunction, characterized by amenorrhea with elevated gonadotropin levels. The disorder presents as absence of normal progression of puberty. Objective: To elucidate the cause of ovarian dysfunction in a family with POI. Design: We performed whole-exome sequencing in 2 affected individuals. To evaluate whether DNA double-strand break (DSB) repair activities are altered in biallelic mutation carriers, we applied an enhanced green fluorescent protein-based assay for the detection of specific DSB repair pathways in blood-derived cells. Setting: Diagnoses were made at the Pediatric Endocrine Clinic, Clalit Health Services, Sharon-Shomron District, Israel. Genetic counseling and sample collection were performed at the Pediatric Genetics Unit, Schneider Children's Medical Center Israel, Petah Tikva, Israel. Patients and Intervention: Two sisters born to consanguineous parents of Israeli Muslim Arab ancestry presented with a lack of normal progression of puberty, high gonadotropin levels, and hypoplastic or absent ovaries on ultrasound. Blood samples for DNA extraction were obtained from all family members. Main Outcome Measure: Exome analysis to elucidate the cause of POI in 2 affected sisters. Results: Analysis revealed a stop-gain homozygous mutation in the SPIDR gene (KIAA0146) c.839G>A, p.W280*. This mutation altered SPIDR activity in homologous recombination, resulting in the accumulation of 53BP1-labeled DSBs postionizing radiation and γH2AX-labeled damage during unperturbed growth. Conclusions: SPIDR is important for ovarian function in humans. A biallelic mutation in this gene may be associated with ovarian dysgenesis in cases of autosomal recessive inheritance.

Utility of Ultrasound and Magnetic Resonance Imaging in Patients with Disorders of Sex Development Who Undergo Prophylactic Gonadectomy.

STUDY OBJECTIVE: To evaluate ultrasonography and magnetic resonance imaging (MRI) in identifying gonads in patients with disorders of sex development (DSD) who undergo prophylactic gonadectomy, and to assess the capacity of preoperative imaging to detect premalignant and malignant transformation. DESIGN, SETTING, AND PARTICIPANTS: Retrospective cohort at a tertiary referral center of 39 patients with DSD who underwent MRI and/or ultrasonography before prophylactic gonadectomy. INTERVENTIONS: None. MAIN OUTCOME MEASURES: Identification of gonads on preoperative imaging. RESULTS: Thirty-three patients underwent ultrasonography, which identified 54% (35/65) of gonads and 14 patients had MRI, which identified 41% (11/27) of gonads. There was no significant difference between imaging modalities in the proportion of gonads identified (P = .25). The proportion of pathology-confirmed dysgenetic gonads identified was higher on ultrasound compared with MRI (51% vs 8%; P = .02). There was no difference in the proportion of pathology-confirmed testes identified on ultrasound and MRI (54% vs 71%; P = .33). Eleven out of 39 patients (28%) were diagnosed with a premalignant lesion, and there were no distinguishing characteristics documented on imaging reports to suggest transformation. The only diagnosed malignancy in this series had imaging describing a "normal-sized ovary." CONCLUSION: Ultrasonography and MRI identified 40%-50% of gonads in patients with DSD who underwent prophylactic gonadectomy, with no significant difference between the 2 modalities. Clinicians should, therefore, consider ultrasonography as a first-line imaging modality. Premalignant lesions were not detected on either imaging modality. The only malignancy was described as a "normal-sized ovary" which should raise concern in a patient with complete gonadal dysgenesis expected to have streak gonads.

Sonography of the pelvis in patients with primary amenorrhea.

Duplex/color Doppler sonography (US) is the imaging modality of choice for the evaluation of patients with primary amenorrhea. Careful correlation with clinical history, physical examination and laboratory findings significantly narrows the diagnostic possibilities thus allowing for a more precise diagnosis. This article discusses the wide gamut of etiologies of primary amenorrhea, the US appearance of pathologic processes that result in primary amenorrhea, and helps the reader understand when additional higher tech imaging is indicated.

[Delayed puberty with extreme uterine hypotrophy: do not conclude too early to the absence of the uterus]. / Retard pubertaire avec hypotrophie utérine majeure: ne pas conclure trop vite à l'absence d'utérus.

OBJECTIVE: To emphasize the difficulties to distinguish between uterine agenesis and extreme uterine hypotrophy in the context of primary amenorrhoea with delayed puberty. PATIENTS AND METHODS: Among adolescents who consulted with our center because of primary amenorrhoea, from 1997 to 2005, three patients were referred for a suspicion of Mayer-Rokitansky-Kuster-Hauser Syndrome, after ultrasonography had failed to visualize the uterus. The 3 patients underwent endocrine and genetic evaluations. Transabdominal ultrasonography and MRI performed pelvic examination. Patients were placed under estrogen treatment. RESULTS: Endocrine evaluation indicated primary ovarian failure for patient 1, and hypogonadotrophic hypogonadism for patients 2 and 3. Karyotype was 46,XX in all patients. Initial pelvic ultrasonography revealed the absence of uterus. MRI allowed visualizing prepubertal uterus for patient 1, a hypotrophic uterus for patient 3 and concluded to uterine agenesis for patient 2. In all cases estradiol substitutive therapy induced uterine growth and confirmed retrospectively the diagnosis of extreme uterine hypotrophy. DISCUSSION AND CONCLUSION: Pelvic ultrasonography can be misleading in the evaluation of primary amenorrhoea. No visualization of uterus on ultrasonography can occur in the context of delayed puberty and should not induce a premature diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Indeed, such a diagnosis has therapeutic, reproductive and psychological consequences.

Mayer-Rokitansky-Küster-Hauser syndrome associated with unilateral gonadal agenesis. A case report.

BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is the second most frequent cause of primary amenorrhea, with a reported incidence of 0.002%. Patients have a normal karyo-type and usually normal ovaries. Associated ovarian abnormalities are rarely reported. CASE: A 17-year-old woman with primary amenorrhea was evaluated by diagnostic laparoscopy, which showed complete müllerian agenesis. On the left side, the uterine tube and round ligament were hypoplastic, and the ovary was absent. The karyotype was 46, XX. Intravenous urography revealed a right kidney below the normal site with malrotation abnormality. CONCLUSION: Müllerian duct agenesis coexisting with unilateral ovarian agenesis and a contralateral renal abnormality has not been widely described before. Unilaterality might play a role in the etiologic factor of Mayer-Rokitansky-Küster-Hauser syndrome.

Prenatal diagnosis of 46,XX male fetuses.

Ultrasonography can accurately determine phenotypic sex differences from those of the genetic sex. Two cases were identified; they were the result of a translocation of the SRY gene from the Y chromosome to the X chromosome during meiosis. An ultrasonographic difference may represent an otherwise unsuspected genetic abnormality.

The ovary. Computed tomography and magnetic resonance imaging.

CT and MR imaging can both contribute valuable clinical information in women with benign and malignant ovarian masses; the superior soft tissue contrast and multiplanar capabilities provided by MR imaging make it a valuable tool to evaluate the normal ovary, polycystic ovaries, endometriosis, and disorders of sexual differentiation. CT is currently the recommended modality to stage ovarian carcinoma, and peritoneal implants as small as 5 mm can be visualized. With the addition of contrast-enhanced images to conventional MR sequences, however, improved visualization of intratumoral architecture has also allowed for accurate MR characterization of benign versus malignant ovarian masses. Fat saturation techniques used with conventional MR sequences can also be used for definitive characterization of benign fat-containing teratomas and differentiate these tumors from hemorrhagic ovarian cysts or endometriomas. Finally, the detailed visualization of the normal-sized ovary on MR images provided by both the body coil and the new phased-array coil allows detection of the normal ovaries, ovarian follicles, and ovarian cysts throughout the premenopausal and postmenopausal years. Findings of polycystic ovarian syndrome, which cannot be evaluated by CT, are characteristic on MR images. MR is unparalleled in the evaluation of disorders of sexual differentiation because MR images can depict ectopic and normally positioned gonads and provide multiplanar depiction of the other pelvic organs and perineum as well. CT and MR imaging can provide valuable and specific clinical information about the ovary and benign and malignant ovarian disease.

[The role of echography in the complex dynamic examination of patients with retardation of sexual development]. / Rol' ékhografii v kompleksnom dinamicheskom nabliudenii za bol'nymi s zaderzhkoi polovogo sozrevaniia.

Seventy-nine patients with sexual development retardation were examined, 24 of these suffered from ovarian genesis condition and 55 from central genesis condition. The findings evidence that detection of the uterus and gonads presenting as cords is one of the diagnostic criteria indicating gonadal dysgenesis. Echographic examinations carried out over the course of therapy yield a more accurate picture of ovarian function. No increase in uterine size on the echogram after discontinuation of hormonal therapy and the appearance of follicles in the ovaries after treatment point to normally functioning ovaries and helps specify the origin of sexual development retardation. In sexual development retardation of a central origin ultrasonic scanning helps assess the therapy efficacy and predict its outcome.

[Echographic studies of the internal genitalia in patients with gonadal dysgenesis]. / Ekhografsi izsledvaniia na vutreshnite genitalii pri bolni s gonadna dizgeneziia.

The state of internal genitals of 30 patients with gonadal dysgenesis was examined dynamically by ultrasound. The results were compared with data from pneumogynecography (PGG), laparoscopy and laparotomy. In 96% of the patients ultrasound examination coincided with PFF and 100% with laparoscopy and laparotomy. Echographic examination is safe, adequately informative and could replace other more invasive depicting methods.

Persistent müllerian duct syndrome in a man with transverse testicular ectopia.

A 33-year-old Pakistani man with transverse testicular ectopia underwent surgery for repair of a left inguinal hernia. At operation a uterine structure with attached vasa deferentia was found in the left inguinal area and it was removed. Transverse testicular ectopia has been reported previously in association with the persistent müllerian duct syndrome. A deficiency of activity of a müllerian inhibiting substance during gestation is believed to be responsible for this syndrome. Most patients usually are sterile. Cloning of the gene for a müllerian inhibiting substance should permit studies of the pathogenesis of the persistent müllerian duct syndrome.

Large prostatic utricles and related structures, urogenital sinus and other forms of urethrovaginal confluence.

The urethrograms and clinical records of 106 children with a large prostatic utricle or related structures, urogenital sinus in intersex disorders and other types of urethrovaginal confluence were reviewed. There were 27 boys with normal external genitalia, 19 cases of male hypospadias, 1 case of male pseudohermaphroditism, 7 cases of mixed gonadal dysgenesis, 1 case of true hermaphroditism, 32 cases of female pseudohermaphroditism, 11 normal girls with urethrovaginal confluence and 8 cases of cloacal malformation. Among the patients of the first 2 groups 10 had an imperforate anus, 7 the prune belly syndrome, 6 Down's syndrome and 2 posterior urethral valves.

Spleno-gonadal fusion: anatomic and angiographic study of a case.

The authors report a case of spleno-gonadal fusion in which the advantage of an angiographic study permitted, for the first time, an analysis of the vascularization of this malformation. The embryologic study explains the malformations associated with the continuous type of spleno-gonadal fusion.

A case of microgastria in association with splenic-gonadal fusion.

Microgastria is a rare congenital anomaly usually associated with asplenia. In this 2 1/2-year-old presenting with left hydrocele and inguinal hernia multiple accessory spleens were found in the inguinal-scrotal region compatible with splenic-gonadal fusion. 99mTc-sulfur colloid scanning is helpful in microgastria searching for the presence of splenic tissue and in splenic-gonadal fusion for the location of accessory heterotopic spleens.