scholarly journals Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
Felix C. K. Wong ◽  
Angela Z. Chan ◽  
W. S. Wong ◽  
Angel H. W. Kwan ◽  
Tracy S. M. Law ◽  
...  
Keyword(s):  
Polycystic Ovary ◽  
Transvaginal Ultrasound ◽  
Cell Tumor ◽  
Total Testosterone ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Not Otherwise Specified ◽  
Steroid Cell Tumor ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

We describe a case of a 24-year-old overweight woman who presented with hirsutism, secondary amenorrhea, clitoromegaly, and symptoms of diabetes mellitus (DM). While a diagnosis of polycystic ovary syndrome (PCOS) with its associated metabolic disturbances was initially considered, serum total testosterone, androstenedione, and 17-hydroxyprogesterone (17-OHP) measured by liquid chromatography tandem mass spectrometry (LC-MS/MS) were significantly increased. As 17-OHP did not increase upon ACTH (Synacthen) stimulation and the urinary steroid profile (USP) was compatible with an ovarian source of 17-OHP excess rather than adrenal, non classical congenital adrenal hyperplasia (NCCAH) was unlikely and an androgen-secreting tumor was suspected. Transabdominal ultrasound revealed the presence of an enlarged right ovary with a polycystic ovary morphology and no discrete mass. Transvaginal ultrasound and [18F]− fluorodeoxyglucose positron emission tomography–computed tomography (FDG PET–CT) enabled the localization of a right ovarian tumor. Laparoscopic right salpingo-oophorectomy was performed and a histological diagnosis of steroid cell tumor, not otherwise specified (SCT–NOS) was made. Hyperandrogenism and menstrual disturbances resolved postoperatively. A literature review revealed that 17-OHP-secreting SCT–NOS may uncommonly show positive responses to ACTH stimulation similar to 21-hydroxylase deficiency. Alternatively, USP might be useful in localizing the source of 17-OHP to the ovaries. Its diagnostic performance should be evaluated in further studies.

scholarly journals MON-004 Ovarian Steroid Cell Tumor, Not Otherwise Specified (NOS): A Case Report and Clinical Review

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Miry Lobaton ◽  
Luz M Malanco ◽  
Liliana Trejo
Keyword(s):  
Multidisciplinary Team ◽  
Transvaginal Ultrasound ◽  
Cell Tumor ◽  
Ovarian Tumors ◽  
Total Testosterone ◽  
Ovarian Steroid ◽  
Endocrine Activity ◽  
Not Otherwise Specified ◽  
Imaging Results ◽  
Steroid Cell Tumor

Abstract Background: Ovarian tumors are divided into non functioning and functioning, within the last group, we can find those with endocrine activity that produce androgenization. Ovarian cell tumors, not otherwise specified (SCT-NOS) is a rare type of ovarian sex cordomal tumor and represents the 60% of this tumors, which compromise less than 0.1% of the ovarian tumors. (1) Clinical Case: We here present a 28 year old woman who was referred to the Endocrine Clinic due to secondary amenorrhea and virilization signs. At the age of twelve a diagnosis of polycystic ovarian syndrome (POS) was made and treated with combined oral anticonceptive (COA). Menses became regular only with medication. Six months after she stopped medication, amenorrhea and virilization signs worsened. Biochemically she had levels of serum total testosterone 6.8 ng/mL (0.02-0.45) and free testosterone 42 pg/mL (0.1-6.4) since only pelvic ultrasonography has been made by physician, a transvaginal ultrasound and abdomen – pelvic CT scan showed a anexial tumor. After analysis of biochemical and imaging results a multidisciplinary team performed a surgical extirpation of the primary lesion, which was diagnosed by histopathology as a tumor of lipoidic cells NOS. A month after the surgery, menses became regular. Conclusion: The purpose of this article is to present the available information about this kind of tumors and the treatment recommended. It is mandatory to follow a correct approach among a multidisciplinary team, in order to get the correct diagnosis at the proper time. (1) Zang L, Ye M, Yang G, Li J, Liu M, Du J et al. Accessory ovarian steroid cell tumor producing testosterone and cortisol. Medicine. 2017;96(37):e7998.

scholarly journals Ovarian Steroid Cell Tumor (Not Otherwise Specified): A Case Report of Ovarian Hyperandrogenism

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Hadjkacem Faten ◽  
Ghorbel Dorra ◽  
Charfi Slim ◽  
Safi Wajdi ◽  
Charfi Nadia ◽  
...  
Keyword(s):  
Transvaginal Ultrasound ◽  
Cell Tumor ◽  
Ovarian Mass ◽  
Stromal Tumors ◽  
Not Otherwise Specified ◽  
Fertility Sparing Surgery ◽  
Fertility Sparing ◽  
Steroid Cell Tumor ◽  
Ovarian Hyperandrogenism ◽  
Sex Cord Stromal Tumors

Steroid cell tumors (SCTs) (not otherwise specified (NOS)) are rare sex cord-stromal tumors of the ovary. These are associated with hormonal disturbances resulting in menstrual bleeding patterns and androgenic effects. We report the case of a 36-year-old female presented with hirsutism, signs of virilization, and elevated androgen levels. Transvaginal ultrasound showed a solid-appearing right ovarian mass. She underwent fertility-sparing surgery with a laparoscopic left oophorectomy. Histological examination showed a benign steroid cell tumor, NOS. These tumors often small can then present a problem of positive diagnosis responsible for a delay in the diagnosis.

scholarly journals Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche

2011 ◽  
Vol 165 (2) ◽  
pp. 307-314 ◽  
Author(s):  
Lucia Ghizzoni ◽  
Marco Cappa ◽  
Alessandra Vottero ◽  
Graziamaria Ubertini ◽  
Daniela Carta ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Serum Levels ◽  
Cortisol Response ◽  
Operating Characteristics ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
17 Hydroxyprogesterone ◽  
Italian Children ◽  
21 Hydroxylase Deficiency ◽  
Premature Pubarche

ObjectivePremature pubarche (PP) is the most frequent sign of nonclassic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in childhood. The aim of this study was to assess the relationship between the CYP21A2 genotype and baseline and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) and cortisol serum levels in patients presenting with PP.Patients and methodsA total of 152 Italian children with PP were studied. Baseline and ACTH-stimulated 17-OHP and cortisol serum levels were measured and CYP21A2 gene was genotyped in all subjects.ResultsBaseline and ACTH-stimulated serum 17-OHP levels were significantly higher in NCCAH patients than in both heterozygotes and children with idiopathic PP (IPP). Of the patient population, four NCCAH patients (7.3%) exhibited baseline 17-OHP values <2 ng/ml (6 nmol/l). An ACTH-stimulated 17-OHP cutoff level of 14 ng/ml (42 nmol/l) identified by the receiver-operating characteristics curves showed the best sensitivity (90.9%) and specificity (100%) in distinguishing NCCAH patients. This value, while correctly identifying all unaffected children, missed 9% of affected individuals. Cortisol response to ACTH stimulation was <18.2 μg/dl (500 nmol/l) in 14 NCCAH patients (28%) and none of the heterozygotes or IPP children. Among the 55 NCCAH patients, 54.5% were homozygous for mild CYP21A2 mutations, 41.8% were compound heterozygotes for one mild and one severe CYP21A2 gene mutations, and 3.6% had two severe CYP21A2 gene mutations.ConclusionIn children with PP, baseline 17-OHP levels are not useful to rule out the diagnosis of NCCAH, which is accomplished by means of ACTH testing only. The different percentages of severe and mild CYP21A2 gene mutations found in PP children compared with adult NCCAH patients is an indirect evidence that the enzyme defect is under-diagnosed in childhood, and it might not lead to the development of hyperandrogenic symptoms in adulthood. Stress-dose glucocorticoids should be considered in patients with suboptimal cortisol response to ACTH stimulation.

17-HYDROXYPROGESTERONE IN THE COSYNTROPIN TEST: RESULTS IN NORMAL AND HIRSUTE WOMEN AND IN MILD CONGENITAL ADRENAL HYPERPLASIA

1979 ◽  
Vol 90 (3) ◽  
pp. 481-489 ◽  
Author(s):  
M. Gourmelen ◽  
M. T. Pham-Huu-Trung ◽  
M. G. Bredon ◽  
F. Girard
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Individual Values ◽  
Minimum Concentration ◽  
The Mean ◽  
17 Hydroxyprogesterone ◽  
The Individual ◽  
21 Hydroxylase Deficiency

ABSTRACT The variations in plasma cortisol, testosterone and 17-hydroxyprogesterone (17-OHP) induced by an im injection of 0.25 mg cosyntrophin were studied in three groups of subjects: 16 healthy women, 16 hirsute women (HW) and 10 mild cases of congenital adrenal hyperplasia (CAH). The basal values of cortisol and testosterone were comparable between the three groups. In the patients with mild CAH, the mean 17-OHP concentration was increased: 483.9 ng/100 ml (113-1200 ng), but it should be noted that the individual values could overlap with the normal concentrations found in the controls and the HW during the luteal phase of the cycle. One hour after the injection of cosyntropin, a massive response of 17-OHP was observed in the mild cases of CAH, the mean basal concentration was multiplied by ten: 4843 ng/100 ml. The minimum concentration reached was 1740 ng/100 ml which is still 3-fold the highest level seen either in normal women (400 ng/ml) or in hirsute women (550 ng/100 ml). Determination of 17-OHP following a short-term ACTH stimulation, therefore provides evidence of partial 21-hydroxylase deficiency.

scholarly journals Normal Ovulatory Women with Polycystic Ovaries Have Hyperandrogenic Pituitary-Ovarian Responses To Gonadotropin-Releasing Hormone-Agonist Testing*

2000 ◽  
Vol 85 (3) ◽  
pp. 995-1000
Author(s):  
Peter L. Chang ◽  
Steven R. Lindheim ◽  
Cheri Lowre ◽  
Michel Ferin ◽  
Frank Gonzalez ◽  
...  
Keyword(s):  
Gnrh Agonist ◽  
Polycystic Ovary ◽  
Density Lipoprotein ◽  
Tolerance Test ◽  
Total Testosterone ◽  
Response Patterns ◽  
Polycystic Ovaries ◽  
Acth Stimulation ◽  
Insulin Tolerance ◽  
17 Hydroxyprogesterone

Abstract Women with polycystic ovary syndrome (PCOS) have chronic anovulation and hyperandrogenism and frequently have abnormalities in their lipid profiles and insulin/insulin-like growth factor axis that increase their lifetime risk for cardiovascular disease. Normal ovulatory women may have polycystic ovaries on ultrasonography and yet lack the clinical features of PCOS. To further explore whether ovulatory women without clinical/biochemical hyperandrogenism but with polycystic appearing ovaries (ov-PAO) have subclinical features of PCOS, we prospectively characterized 26 ov-PAO women and matched them by age and body mass index to 25 ovulatory women with normal appearing ovaries (ov-NAO) and to 22 women with PCOS. After an overnight fast, all women had baseline endocrine and metabolic assessments. In addition, a subset of each group of women underwent GnRH-agonist (leuprolide acetate 1 mg sc) testing, ACTH stimulation, and an insulin tolerance test (ITT). At baseline, ov-PAO and ov-NAO women had similar endocrine profiles (LH, LH:FSH, androstenedione, and DHEAS). Compared with ov-NAO, 31% of ov-PAO women had reduced glucose responses after insulin (Kitt), suggesting mild insulin resistance, and 35% had high density lipoprotein levels below 35 mg/dL, a level considered to represent significant cardiovascular risk. After GnRH-agonist, ov-PAO women had response patterns in LH, total testosterone, and 17-hydroxyprogesterone (17-OHP) that were intermediate between ov-NAO and women with PCOS. Ovarian responses were above the normal range in 30–40% of women with ov-PAO. In ov-PAO, peak responses of LH after leuprolide correlated with triglyceride levels (P &lt; 0.05) and peak responses of 17-OHP correlated inversely with Kitt values (P &lt; 0.05). No significant differences were noted with ACTH testing. In conclusion, occult biochemical ovarian hyperandrogenism may be uncovered using GnRH-agonist in ovulatory women with ov-PAO, while adrenal responses remain normal. Subtle metabolic abnormalities may also be prevalent.

scholarly journals MANAGEMENT OF ENDOCRINE DISEASE: Diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

2019 ◽  
Vol 180 (3) ◽  
pp. R127-R145 ◽  
Author(s):  
Anna Nordenström ◽  
Henrik Falhammar
Keyword(s):  
Adult Life ◽  
Disease Diagnosis ◽  
Medical Attention ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Glucocorticoid Treatment ◽  
Long Term Treatment ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline 17-hydroxyprogesterone measurement may be used for screening, but 17-hydroxyprogesterone measurement after ACTH stimulation is the gold standard. We advocate a CYP21A2 mutation analysis to verify the diagnosis, for genetic counselling and for better prognostic and treatment guidance. Most patients are diagnosed in adolescence and adult life with hirsutism, acne, a PCOS-like picture and fertility issues. Many men with NCAH never seek medical attention and escape diagnosis. Although treatment is somewhat controversial, an early diagnosis and start of treatment may have positive implications on growth and be relevant for preventing and ameliorating the symptoms and consequences of androgen excess that develop over time, including fertility issues. Long-term treatment with glucocorticoids will improve the androgen symptoms but may result in long-term complications, such as obesity, insulin resistance, hypertension, osteoporosis and fractures. The glucocorticoid doses should be kept low. However, complications seen in NCAH, assumed to be caused by the glucocorticoid treatment, may also be associated with long-term androgen exposure. Oral contraceptive pills are a common treatment option for young females with NCAH. Regular clinical monitoring to improve the clinical outcome is recommended. It is important to acknowledge that glucocorticoid treatment will lead to secondary cortisol insufficiency and the need for stress dosing. Studies focusing on the specific difficulties patients with NCAH face, both those with a late clinical diagnosis and those with a neonatal diagnosis obtained by screening, are warranted.

scholarly journals Fertility recovery in patients with non-classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

2018 ◽  
Vol 64 (2) ◽  
pp. 79-84
Author(s):  
Elena L. Soboleva ◽  
Natalia S. Osinovskaya ◽  
Natalia N. Tkachenko ◽  
Vladislav S. Baranov ◽  
Marina A. Tarasova
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Fertility Restoration ◽  
Glucocorticoid Therapy ◽  
Total Testosterone ◽  
Adrenal Hyperplasia ◽  
Miscarriage Rate ◽  
Hydroxylase Deficiency ◽  
Cyp21a2 Gene ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency

Background. Very little research has been devoted to the studying fertility problem in nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency. It is difficult to draw definitive conclusions regarding the need for glucocorticoid therapy in NCAH women based on limited data. Therefore, evaluating fertility in patients with NCAH and exploring the possibility of correcting its disturbances seemed to us to be a matter of importance. Aims — to evaluate the reproductive function of patients with NCAH and explore potential treatments for this disorder. Materials and methods. The study group included 60 patients with NCAH aged between 18 and 33 years old. NCAH was diagnosed based on early-morning serum 17-hydroxyprogesterone (17-OHP) levels above 30 nmol/l or 17-hydroxyprogesterone levels after ACTH stimulation above 26 nmol/l and/or characterized by molecular analysis of the CYP21A2 gene. Ultrasonography of the uterus and ovaries were performed in the cycle’s follicular phase. Total testosterone, dehydroepiandrosterone sulfate (DHEAS), Androstenedione, 17-OHP and Progesterone was measured. Results. Overall, the patients complained of menstrual cycle disorders (60%), infertility — (28%), hirsutism — (63%). Prior to being diagnosed with NCAH, Thirty-four women sought care because of infertility or recurrent miscarriages. Seventeen women (50%) had miscarriages; later on, five of them developed secondary infertility. Two patients became pregnant without treatment being already diagnosed and progressed to delivery. Once the diagnosis of NCAH was made, 58 women started receiving glucocorticoid therapy, Thirty nine (67%) women became pregnant while on glucocorticoid therapy. Thus glucocorticoid therapy reduced the miscarriage rate from 50 to 10.3%; р<0.001. There was no difference in the miscarriage rate between patients who received or quit glucocorticoid therapy during pregnancy. Conclusions. Glucocorticoid therapy is a highly efficacious method of fertility restoration in NCAH patients. Use of glucocorticoids during pregnancy planning significantly reduced the miscarriage rate. No difference in pregnancy outcome between the patients who received glucocorticoid therapy during pregnancy as opposed to those who did not indicates the advisability of treatment discontinuation once pregnancy is determined.

scholarly journals Post Menopausal Hyperandrogenism: A Case of a Steroid Cell Tumor of the Ovary

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A783-A783
Author(s):  
Lauren Juliette Hassan Nelson ◽  
Sarika Rao
Keyword(s):  
Adrenal Adenoma ◽  
Transvaginal Ultrasound ◽  
Rare Condition ◽  
Cell Tumor ◽  
Prior History ◽  
Total Testosterone ◽  
African American Female ◽  
Bilateral Oophorectomy ◽  
Steroid Cell Tumor ◽  
History Of

Abstract Introduction: Postmenopausal hyperandrogenism is a rare condition that causes hirsutism, virilization, and clitoromegaly that should be carefully evaluated in order to avoid overlooking an androgen secreting tumor (1). Case: A 48 year old African American female with a prior history of polycystic ovarian syndrome (PCOS) presented for evaluation of hirsutism. Of note, she also underwent menopause at age 41 after receiving chemotherapy for a history of multiple myeloma, and she has been on steroids since the time of her diagnosis. On exam, she had thick, dark hair growth on her chin, upper lip, and chest, as well as male-patterned baldness, acne, easy bruising, proximal muscle weakness, deep voice, and elevated blood pressure. Prior to endocrinology evaluation, she was started on spironolactone 25 mg BID. Lab work up included dehydroepiandrosterone sulfate (DHEAS) 73 mcg/dL (27-240 mcg/dL), 17-hydroxyprogesterone 74 ng/dL (31-455 ng/dL), androstenedione 271 ng/dL (30-200 ng/dL), total testosterone 763 ng/dL (8-60 ng/dL), bioavailable testosterone 244 ng/dL (0.8-10 ng/dL), hemoglobin A1c 4.3%, follicle stimulating hormone 30 IU/L, luteinizing hormone 23.9 IU/L, insulin 11 mcIU/mL (2.6-24.9 mcIU/mL), glucose 71, insulin-like growth factor 1 236 ng/mL (44-227 ng/mL) with subsequent normal glucose suppression test. While transvaginal ultrasound did not note any abnormal findings, a computed tomography of the abdomen/pelvis showed a new hyperdense focus in the left ovary as well as a tiny right adrenal nodule, most likely an adenoma. Follow up magnetic resonance imaging confirmed a 1.6 cm enhancing solid left ovarian mass; it also confirmed a right adrenal adenoma and left adrenal thickening versus a tiny adenoma. Urine metanephrines and catecholamines were normal. Patient had total hysterectomy and bilateral oophorectomy; pathology showed a steroid cell tumor. Conclusion: Postmenopausal hyperandrogenism has several causes: insulin resistance, PCOS, non-classic congenital adrenal hyperplasia, medications, and tumors of the ovaries or adrenals. Severe hyperandrogenemia should raise the suspicion of an ovarian or adrenal neoplasm, necessitating prompt imaging (1). Certain imaging may not reveal smaller masses, and additional imaging or ovarian/adrenal vein sampling may be needed. Typically, an elevated DHEAS with a high testosterone suggests an adrenal source, while androstenedione can be elevated in both glands. Once identified, the involved gland is surgically resected. This patient was found to have a steroid cell tumor, which has malignant potential. They make up less than 0.1% of all ovarian tumors (2). Initial treatment is surgical resection and may necessitate chemotherapy if malignant. 1) Markopoulos MC, Kassi E, Alexandraki KI, Mastorakos G, Kaltsas G. Hyperandrogenism after menopause. Eur J Endocrinol. 2015 Feb;172(2):R79-91. doi: 10.1530/EJE-14-0468. Epub 2014 Sep 15. PMID: 25225480.2) Hayes, Mary C. M.D.; Scully, Robert E. M.D. Ovarian Steroid Cell Tumors (Not Otherwise Specified), The American Journal of Surgical Pathology: November 1987 - Volume 11 - Issue 11 - p 835-845

Screening for non-classic 21-hydroxylase deficiency in an HLA-B14 positive population

1987 ◽  
Vol 116 (2) ◽  
pp. 211-215 ◽  
Author(s):  
P. Motta ◽  
L. Airaghi ◽  
A. Catania ◽  
I. Mangone ◽  
A. Orsatti ◽  
...  
Keyword(s):  
Low Frequency ◽  
Acth Stimulation Test ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Gene Coding ◽  
Increased Risk ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency ◽  
Positive Population ◽  
Enzymatic Defect

Abstract. To evaluate whether HLA-B14 positive individuals are at increased risk for non-classic 21-hydroxylase deficiency, the response of progesterone and 17-hydroxyprogesterone to ACTH stimulation test was studied in a group of 27 apparently normal, HLA-B14 positive, blood donors. Four of these subjects showed a response typical of 21-hydroxylase defect. In the present series, the enzymatic defect was found to have a considerably lower prevalence than in a previous study of smaller size (15% vs 66%); however, considering the low frequency of the gene coding for the defect in the general population (0.015–0.057), the present results confirm an increased risk for non-classic 21-hydroxylase deficiency in HLA-B14 positive individuals. Therefore, in these subjects, a screening for 21-hydroxylase deficiency may be indicated.

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