Microscopic Sertoliform Sex Cord Proliferations: A Rare Incidental Finding Associated With Endometriosis and Ovarian Epithelial Neoplasia.

Microscopic sex cord proliferations are a rare incidental finding seen in association with ovarian and uterine stromal or epithelial neoplasms and more uncommonly non-neoplastic conditions such as endometriosis and adenomyosis. They may also occur in the absence of other pathology, as an incidental finding in the ovaries of pregnant women and in heterotopic locations such as the fallopian tube. Most reports of this phenomenon describe adult granulosa cell tumor-like morphology. Herein, we describe 4 cases of microscopic sex cord proliferations with Sertoliform features, occurring in the stromal component of endometriosis or in the wall of an epithelial ovarian neoplasm; 2 of the patients with endometriosis had concurrent endometrioid adenocarcinoma (1 uterine corpus, 1 ovary). The proliferations were positive with sex cord markers inhibin and calretinin. As far as we are aware, such Sertoliform proliferations have not been reported previously in endometriosis and have only rarely been described in association with ovarian epithelial neoplasia. It is likely that such proliferations represent a benign non-neoplastic phenomenon. Awareness of this phenomenon is important in order to avoid misdiagnosis as a sex cord or other neoplasm. In reporting this unusual phenomenon, we review incidental sex cord and sex cord-like proliferations in the female genital tract.

Ovarian steroid cell tumor (not otherwise specified) with subsequent spontaneous pregnancy after tumor removal: a case report and literature review.

Steroid cell tumors not otherwise specified are rare sex cord-stromal tumors of the ovary that may produce various steroids and are associated with hirsutism and virilization. We report a rare case of ovarian steroid cell tumor with subsequent spontaneous pregnancy after tumor removal. A 31-year-old woman presented with secondary amenorrhea, hirsutism, and inability to conceive. Clinical and diagnostic evaluations revealed a left adnexal mass and elevated serum total testosterone and 17α-hydroxyprogesterone levels. She underwent a left salpingo-oophorectomy, and histopathological examination confirmed the diagnosis of a steroid cell tumor not otherwise specified. Her serum total testosterone and 17α-hydroxyprogesterone normalized one month after surgery. Her menses resumed spontaneously one month after the operation. She spontaneously conceived 12 months after the surgery. The patient had an uncomplicated pregnancy and delivered a healthy male infant. In addition, we reviewed the literature on steroid cell tumors not otherwise specified with subsequent spontaneous pregnancies after surgery and data regarding pregnancy outcomes.

Ovarian steroid cell tumor causing isosexual pseudoprecocious puberty in a young girl: an instructive case and literature review.

BACKGROUND: Steroid cell tumors (SCTs) are very rare sex cord-stromal tumors and account only for less than 0.1% of ovarian neoplasms. SCTs might comprise diverse steroid-secreting cells; hence, the characteristic clinical features were affected by their propensity to secrete a variety of hormones rather than mass effect resulting in compression symptoms and signs. To date, ovarian SCTs have seldom been reported in children, particularly very young children; and pseudoprecocious puberty (PPP) as its unique principal manifestation should be reiterated. CASE PRESENTATION: We reported a 1-year-8-month-old girl presenting with rapid bilateral breast and pubic hair development within a 2-month period. Undetectable levels of LH and FSH along with excessively high estradiol after stimulation with gonadotropin-releasing hormone (GnRH), as well as a heterogeneous mass inside left ovary shown in pelvic sonography indicate isosexual PPP. Her gonadal hormones returned remarkably to the prepubertal range the day after surgery, and histology of the ovary mass demonstrated SCTs containing abundant luteinized stromal cells. CONCLUSION: The case highlighted that SCTs causing isosexual PPP should be taken into consideration in any young children coexistent with rapidly progressive puberty given a remarkable secretion of sex hormones. This article also reviewed thoroughly relevant reported cases to enrich the clinical experience of SCTs in the pediatric group.

Postmenopausal hyperandrogenism due to an ovarian sex cord-stromal tumour causing elevated dehydroepiandrosterone sulphate: a case report.

BACKGROUND: The source of excess androgen can be obscure in postmenopausal women with new-onset hyperandrogenism. If serum dehydroepiandrosterone sulphate (DHEAS) is raised, it is presumed to be of adrenal origin because DHEAS is exclusively produced from adrenal cortical cells. This reports an elderly female presenting with new-onset hyperandrogenism due to an ovarian sex cord-stromal tumour, associated with increased serum DHEAS levels. CASE DESCRIPTION: A 76-year-old female with long-standing diabetes and hypertension presented with hirsutism and male type alopecia for six months. She had menopause at 55 years of age. There was a pelvic mass on examination. Total testosterone was 6.106 ng/ml (0.124-0.357) and DHEAS was > 1000 µg/dL (35-430). Contrast-enhanced computed tomography of the abdomen and pelvis showed a heterogeneously enhancing complex mass measuring 11 × 8 cm in the left adnexal region. Adrenal glands were normal. She underwent total abdominal hysterectomy, bilateral salphingo-oophorectomy, and omentectomy. Both testosterone and DHEAS normalised following surgery. Histology revealed a sex cord-stromal tumour, likely a steroid cell tumour with malignant potential. Fluorodeoxyglucose-Positron emission tomography did not show any additional lesions. CONCLUSIONS: Due to the lack of sulfotransferase in ovarian tissue, markedly elevated DHEAS originating from an ovarian neoplasm is unusual. This phenomenon has not been described except in a patient with a steroid cell tumour causing Cushing syndrome and hyperandrogenism. The mechanism of this rare occurrence remains elusive. Knowledge of this unusual presentation would enable the clinicians to be cautious in localising the androgen source in women with hyperandrogenism.

True hermaphroditism with sex cord tumor with annular tubules (SCTAT): a rare case report and review of the literature.

BACKGROUND: True hermaphroditism is a rare condition. It is defined as the presence of both testicular and ovarian tissues in the same individual. Sex cord tumour with annular tubules (SCTAT) is a rare stromal tumour of the sex cord that occurs mostly in the ovaries. CASE PRESENTATION: A 16-year-old girl presented to the gynaecology department with primary amenorrhea. Gynaecological examination revealed an enlarged clitoris that looked like a small penis. The chromosome karyotype was chimaera. The postoperative pathology confirmed true hermaphroditism with SCTAT. The patient underwent hormonal replacement after an operation and had no evidence of recurrence for 6 months. CONCLUSION: Cases of true hermaphroditism with SCTAT are extremely rare conditions. Surgery and hormonal replacement are important for improving the prognosis of such patients.

Extremely high anti-Mullerian hormone levels detected during infertility workup revealing sex cord tumor with annular tubules and underlying Peutz-Jeghers syndrome: A case report.

We report an infertile, but otherwise asymptomatic woman, whose extremely high anti-Mullerian hormone (AMH) level detected during infertility investigation led to the diagnosis of sex cord tumor with annular tubules (SCTAT) which is a very rare sex cord-stromal tumor (SCST) and eventually revealed a previously undiagnosed hereditary cancer syndrome, Peutz-Jeghers syndrome (PJS). A 33-year-old woman attended Kocaeli University ART Clinic for infertility evaluation. Her AMH level was 319.63 ng/ml. Detection of bilateral ovarian cysts required surgical evaluation. The histopathological examination of ovaries revealed SCTAT. The strong association of SCTAT with PJS raised the suspicion of this syndrome. Whole STK11 gene sequencing confirmed PJS diagnosis. AMH has become a widely used tool in the evaluation of infertile women. Clinicians dealing with infertility should be familiar with the utility of AMH measurement besides being a marker of ovarian reserve. Detection of high AMH concentrations should raise the suspicion of an SCST.

Sex-Cord Tumor with Annular Tubules with Unusual Morphology in an Infant with Peutz-Jeghers Syndrome.

Background Peutz-Jeghers syndrome (PJS) is characterized by hamartomatous gastrointestinal polyposis, mucocutaneous pigmentation and cancer predisposition. The clinical features of PJS manifest in first two decades of life; however, neonatal presentation is uncommon. Case report: We present a five day old girl with PJS that presented with obstructive hamartomatous polyps in the sigmoid colon. At colostomy closure at six months, an incidental ovarian sex-cord tumor with annular tubules (SCTAT) was detected. It showed predominantly a solid pattern with limited tubule formation and was composed of lipid-rich cells. She had no hormonal symptoms. Conclusion: SCTAT can occur as young as six months of age in PJS, and may show histologic overlap with lipid-rich Sertoli cell tumors.

A large ovarian steroid cell tumor-not otherwise specified with a unique combination of benign and malignant features as a challenging cause of oligomenorrhea and hirsutism in a 21-year-old Syrian female: a case report.

BACKGROUND: Ovarian steroid cell tumors represent a rare category of sex cord-stromal tumors that constitute less than 0.1% of all ovarian tumors. These neoplasms are classified into three main subtypes according to the cell of origin: Leidyg cell tumors, stromal luteomas, and steroid cell tumors not otherwise specified (SCTs-NOS). The latter subtype is defined as a neoplasm of an uncertain lineage that mostly affects middle-aged women, whereas it's rare in younger ages. CASE PRESENTATION: We report a case of a 21-year-old virgin female who presented to our hospital with complaints of mild abdominal pain, hirsutism, and oligomenorrhea for more than a year. Before her current admission, the patient had attended an external gynecologic clinic where she had been prescribed oral contraceptives to regulate her periods. Nevertheless, on presentation to our institution, physical examination revealed abdominal tenderness with a palpable pelvic mass and mild hirsutism in the thigh. Ultrasonography demonstrated a large left ovarian mass measuring 154 × 104 mm, and compressing the uterus. Therefore, a unilateral salpingo-oophorectomy was performed, and interestingly, pathologic examination of the large aforementioned mass alongside with immunohistochemical correlation revealed the diagnosis of a large ovarian steroid cell tumor-not otherwise specified with a unique combination of benign and malignant features. CONCLUSIONS: Although ovarian steroid cell tumors represent a rare category, they must be considered in the differential diagnosis for mild virilization symptoms in young females due to the importance of early diagnosis and management. In this manuscript, we aimed to present the first case report from Syria that highlights the crucial role of detailed morphological examination for challenging cases despite the difficulties in differential diagnosis, and the absence of ancillary techniques. Furthermore, we managed to discuss a brief review of diagnostic methods, histological characteristics, and treatment recommendations.

Ovarian steroid cell tumour (NOS) causing Cushing's syndrome in an extremely young girl: A case report.

Steroid cell tumours are rare type of sex cord-stromal tumour of the ovary, with the average age at diagnosis during the fourth decade of life. A 2-year-old girl presented with virilisation, precocious pseudopuberty and Cushing syndrome. Her morning cortisol level was elevated and there was left lower abdominal mass found in radiological examination. An explorative laparotomy followed by a left salpingo-oophorectomy was performed. Histopathological examination revealed an encapsulated solid yellow-tan tumour composed of polygonal cells arranged in nests/lobes, containing numerous vascular channels, with abundant, clear-to-granular eosinophilic cytoplasm, severe nuclear pleomorphism and no Reinke crystals present consistent with an ovarian steroid cell tumour (NOS). The tumours cells were diffusely positive with calretinin, weak focal positive for inhibin, melan-A, pankeratin, chromogranin and negative for AFP, HMB-45 and androgen receptors. Following the tumour removal, blood pressure regressed to normal. The patient was discharged and advised for outpatient care.

Ovarian Sclerosing Stromal Tumor and Müllerian Cyst in an 11-yr-old Girl: A Case Report and Review of the Literature.

Sclerosing stromal tumor (SST) is an extremely rare ovarian neoplasm that primarily affects young female individuals. Patients with SST often present with pelvic pain and menstrual irregularities. Herein, we report a case of SST of the ovary in an 11-yr-old girl with symptoms of abdominal pain and menstrual irregularities. A preoperative diagnosis of tumors in the left adnexa and right ovary was made by pelvic ultrasonography and magnetic resonance imaging, and the patient underwent exploratory laparotomy and laparoscopic cystectomy. The ovarian masses were removed and proven to be SST in the left ovary and Müllerian cyst in the right fallopian tube on histopathologic examination and immunochemistry. To our knowledge, the 11-yr-old patient presented here was the only case with SST and Müllerian cyst simultaneously.

Ovarian Steroid Cell Tumor in an Adolescent With Von Hippel-Lindau Syndrome: A Case Report and Review of the Literature.

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant genetic disorder caused by germline mutation of the VHL gene. It is associated with multiple neoplasias including hemangioblastoma, clear cell renal cell carcinoma, pheochromocytoma, and neuroendocrine tumors. Ovarian tumors are extremely rare in this syndrome. We describe the case of a 16-yr-old girl with a previous diagnosis of bilateral pheochromocytoma and several pancreatic neuroendocrine tumors in VHL syndrome context. Follow-up abdominal-pelvic magnetic resonance imaging revealed a 33 mm, well-circumscribed nodule in the right ovary. The patient was submitted to laparoscopic right salpingo-oophorectomy. Microscopically, the tumor consisted of polygonal cells with abundant microvacuolized clear cytoplasm arranged in a solid pattern. The neoplastic cells were immunohistochemically positive for inhibin and calretinin. A diagnosis of ovarian steroid cell tumor was made. Only 4 cases with this association have been reported to date. Of the previously described cases, only one concerns a child; the others were all adult women. All of them had a previous diagnosis of VHL syndrome and presented with secondary amenorrhea and/or hirsutism due to testosterone-secreting ovarian steroid cell tumors. Although extremely rare, the association between VHL syndrome and ovarian steroid cell tumor has been reported, and our case suggests there is a link between the 2 entities.

Ovarian steroid cell tumor as an example of severe hyperandrogenism in 45-year-old woman.

Approximately, 5% of ovarian tumors have hormonal activity. Steroid cell tumors (SCTs) represent about 0.1% of all ovarian tumors. They cause hyperandrogenism associated with typical virilization. In this case report, we present 45-year-old women with unmalignant ovarian SCT-producing androgens which cause severe virilization and secondary amenorrhea lasting two years. Transvaginal ultrasound, computed tomography of adrenal glands, magnetic resonance imaging of small pelvis, laboratory tests (including serum concentration of FSH, LH, testosterone (T), androstenedione (A), dehydroepiandrosterone sulfate (DHEA-S), as well as ROMA index) were performed. During hormonal evaluation, elevated concentrations of serum T - on admission 1.72 ng/ml and one month later 3.75 ng/ml (normal range 0.08-0.82 ng/ml) and A - 24.90 ng/ml (normal range 0.40-3.40 ng/ml) were found. The ROMA index was within the normal range. Enlargement of the left ovary by solid mass 56 × 43 mm was found during ultrasound examination. Based on small pelvis MRI scan and hormonal finding, patient was qualified for laparotomy. During this procedure, the left salpingo-oophorectomy with removal of the tumor was performed. The histopathological examination identified SCT. During follow-up examination, one day after surgery, we found serum testosterone levels within normal ranges - 0.74 ng/ml (normal range 0.08-0.82 ng/ml). This case shows that hormone-producing ovarian tumors are rare but very important clinical causes of severe hyperandrogenism.

Multicentric adrenocorticotropic hormone -producing steroid cell tumor of the fallopian tube & broad ligament in a 15 year old girl.

Steroid cell tumors occur usually in the ovaries with very few reported cases of extra-ovarian origin. Our patient was a fifteen year old female, complaining from secondary amenorrhea and voice deepening. Values of serum cortisol, DHEA, FSH & LH were normal. Serum Testosterone was elevated while ACTH-pm was markedly elevated. MRI described bilateral solid para-ovarian masses. Exploration revealed two bilateral tubal extraluminal cysts & a right broad ligament cyst which were all excised. Pathological examination led to the diagnosis of steroid cell tumor. Serum testosterone & ACTH returned to normal levels after surgery with subsequent regression of the virilizing symptoms. We can conclude that extra-ovarian steroid cell tumors are extremely rare. They are usually presented with virilizing symptoms and hormonal abnormalities. Surgery is the main line of treatment.

The clinical features and reproductive prognosis of ovarian neoplasms with hyperandrogenemia: a retrospective analysis of 33 cases.

The aim of this study is to review the natural course, clinical features, and reproductive prognosis of ovarian tumors associated with hyperandrogenemia. We retrospect 33 patients of ovarian tumors with hyperandrogenemia. Thirty cases (91%) were sex cord-stromal tumors. Sertoli-Leydig cell tumors, Leydig cell tumors, and steroid cell tumors were the most common types. It is not possible, to predict the pathological subtypes based on androgen levels alone. Most of these tumors were solid masses, with an average diameter of 3.9 cm. These tumors are soft or fragile, no clear boundary with normal tissue, thus excision is superior to exfoliation. The average disease course of the top three tumors was 32.6, 35.4, and 67.7 months, respectively. Among 11 married women with a desire to get pregnant, nine cases resumed menstrual periods after surgery and became pregnant naturally. Hyperandrogenemia might predict a better prognosis. The asynchronism of hyperandrogenemia and undetectable tumor may cause irreversible change and emotional depress, the methods of early diagnosis need further study.

Case report: an identical twin with Sertoli-Leydig cell tumor.

Our report details the workup and management of a 43-year-old woman with an identical twin who presented with 2 years of virilization and secondary amenorrhea. Serum total testosterone was elevated. An MRI did not identify adnexal or adrenal pathology. Subsequent ovarian vein sampling demonstrated unilateral testosterone elevation. The patient underwent laparoscopic unilateral oophorectomy resulting in the diagnosis of Sertoli-Leydig cell tumor (SLCT). Although SLCT is a rare sex-cord ovarian tumor, it is associated with endometrial hyperplasia and malignancy. Our goals are to review the workup of androgen-secreting tumors and discuss the clinical importance of the DICER1 mutation in the context of SLCT. In this case, an identical twin underwent DICER1 testing which was one of the essential steps in her clinical management.

Sclerosing stromal tumour of the ovary in a postmenopausal woman presenting with virilization.

Sclerosing stromal tumours are rare benign ovarian neoplasms of the sex cord stromal that occur predominantly in the second and third decades of life. To date, fewer than 200 cases have been described in the literature and most patients have menstrual irregularities and pelvic pain. Sclerosing stromal tumours were reported in which the inactive tumours did not represent endocrine clinical symptoms; however, currently according to several reports, it is the active tumour that produce hormones. Only a few cases of virilizing sclerosing stromal tumours of the ovary have been described in the literature and in this report first describes sclerosing stromal tumour of the ovary in a postmenopausal woman presenting with virilization.

Synchronous Ileal Neuroendocrine Tumor and Ovarian Steroid Cell Tumor Present in a Female With Hyperandrogenism.

Well-differentiated neuroendocrine tumors (NET) of the ileum are generally slow-growing tumors with metastatic potential that may cause systemic symptoms from the secretion of serotonin, cortisol, and other biologically active substances. Likewise, steroid cell tumors of the ovary are slow-growing tumors that cause systemic symptoms from the functional production of androgens, estrogens, and other hormones. To the best of our knowledge, synchronous ileal NET and ovarian steroid cell tumors have not been previously reported in the English literature. We present a case of a 59-yr-old woman with 2 primary tumors that were found incidentally: a Stage III (T2N1M0) 1.6 cm well-differentiated NET (NET G2) of the terminal ileum with metastasis to a mesenteric lymph node and a 2.4 cm steroid cell tumor of the left ovary. The patient had suffered from hyperandrogenism for several years before diagnosis of an ovarian steroid cell tumor, but had no symptoms attributable to the NET. From review of the literature, this is the first case description of these 2 primaries arising in the same individual.

A case of postmenopausal androgen excess.

Ovarian steroid cell tumors are very rare but potentially life-threatening neoplasms. They represent less than 0.1% of all ovarian tumors, typically present in premenopausal women and frequently manifest with virilization. Signs of hyperandrogenism may appear in postmenopausal women due to tumorοus and non-tumorοus adrenal and ovarian causes as well due to the normal aging process. In any case, steroid cell tumor should be suspected in postmenopausal women who present with rapid progressive androgen excess symptoms. This report describes a case of a 67-year-old postmenopausal woman with signs of hyperandrogenism, where an ovarian steroid cell tumor was diagnosed and treated by laparoscopic bilateral salpingo-oophorectomy and synchronous hysterectomy.

Steroid cell tumor of the ovary in a pregnant woman whose androgenic symptoms were masked by pregnancy.

INTRODUCTION: Ovarian steroid cell tumors are very rare sex cord-stromal tumors, and most of them are unilateral and almost one-third of the cases are malignant. CASE REPORT: Here, we present a pregnant woman, who diagnosed with steroid cell tumor of the ovary and underwent surgical staging. DISCUSSION: We will discuss the clinical presentation of the case, management options and follow-up strategies.

Androgen insensitivity syndrome with gynandroblastoma and vulvar leiomyoma: case report and literature review.

OBJECTIVE: This study aimed to describe a rare case of androgen insensitivity syndrome (AIS) in association with gynandroblastoma and vulvar leiomyomata. MATERIALS AND METHODS: The patient was a 64-year-old phenotypically female person with 46 XY chromosomal karyotypes who presented with a chief complaint of abdominal distension of 1-month duration. She had 2 vulvar masses for more than 20 years and had experienced life-long (untreated) amenorrhea. History and physical examination findings showed the patient to be 175 cm in height, with normal breast development, and a lack of pubic or axillary hair. Serum levels were as follows: testosterone, 1,980 ng/dL; estradiol, 1,380.8 pg/mL. RESULTS: In combination with clinical findings, a diagnosis of complete AIS was made. The patient subsequently underwent surgery, during which the bilateral vulvar masses and the rudimentary uterus, right sex gland, and left side of the tumor were resected. Histological examination of the tumor revealed a mass composed primarily of juvenile-type granulosa cells, admixed with a Sertoli cell component that comprised less than 50% of the tumor. The right side of the gonad had an ovarian-like cortex and was considered to be an undeveloped ovary. The left and right side of the vulvar masses were diagnosed with leiomyomas. CONCLUSIONS: Patients with AIS should be monitored closely because these patients may also experience gonadal tumors. When confronted with gynandroblastoma, close attention should be paid to the patient's endocrinologic status, and comprehensive endocrinologic analyses should be conducted to make correct treatment decisions.