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Lauren T Tyack Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia

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Bronwyn G A Stuckey Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia
Keogh Institute for Medical Research, Nedlands, WA, Australia
Medical School, University of Western Australia, Nedlands, WA, Australia

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John P Walsh Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, WA, Australia
Medical School, University of Western Australia, Nedlands, WA, Australia

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Summary

We report a case of catamenial erythema multiforme major in a 46-year-old female. She was treated successfully with goserelin, a GnRH agonist, until the expected age of menopause; however, its therapeutic effects persisted for longer than expected, possibly due to accumulation in adipose tissue.

Learning points

  • A group of menstrual cycle-related dermatoses and hypersensitivity syndromes exist but are rarely reported in the literature.

  • A history of recurrent cutaneous eruptions in premenopausal females should be considered in the context of the menstrual cycle.

  • The diagnosis of menstrual cycle-related dermatoses is largely clinical, although provocation testing can assist.

  • Treatment options are broad and are aimed at reducing the immune response and/or suppressing ovulation.

  • Goserelin may accumulate and have a gonadotrophin-suppressing effect for longer than expected.

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Václav Hána Jr 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Tomáš Brutvan 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Adéla Krausová 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Michal Kršek 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Václav Hána 3rd Department of Internal Medicine, General University Hospital and 1st Faculty of Medicine, Charles University, Prague, Czech Republic

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Summary

Severe Cushing’s syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare but often demands rapid diagnostics and treatment of hypercortisolism with its comorbidities. Pharmacotherapy of hypercortisolism by ketoconazole, metyrapone and osilodrostat is currently available. If unsuccessful or insufficient a bilateral adrenalectomy is an option. We present a 28-year-old female with severe Cushing’s syndrome caused by a bronchial metastatic neuroendocrine tumour (NET). Hypercortisolism was efficiently treated by osilodrostat with block–replace and then titration regimen. A once-daily dose was finally used with normalised cortisol levels. Androgen levels measured by liquid chromatography–mass spectrometry were slightly elevated during the treatment but without any symptoms. A simple once-daily use of osilodrostat with titration regimen led to normalised cortisol levels in a severe Cushing’s syndrome patient with an uncurable bronchial NET. Transient hypocortisolism during treatment appeared but was easily treated by hydrocortisone.

Learning points

  • Cushing’s syndrome from an ectopic adrenocorticotropic hormone-producing tumour is rare.

  • Cortisol upregulation is often severe and rapid, though clinical signs are not always fully pronounced.

  • Rapid treatment is a key for preventing and reducing complications such as fractures, thromboembolism, bleeding, hyperglycaemia, and arterial hypertension.

  • The novel potent steroidogenesis inhibitor osilodrostat can be used as first-line treatment for reducing hypercortisolism.

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Mohammad Alali Kuwait Board of Internal Medicine, Kuwait City, Safat, Kuwait

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Sulaiman Hajji Department of Internal Medicine, Adan Hospital, Kuwait City, Kuwait

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Khalid Aljenaee Department of Internal Medicine, Adan Hospital, Kuwait City, Kuwait

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Summary

Endometrioid carcinomas of the ovary are a subtype of epithelial ovarian tumors, with sertoliform endometrioid carcinomas being a rare variant. We report a case of a previously healthy premenopausal woman presenting with androgenic symptoms in the form of hirsutism and male pattern alopecia. On further testing, she was found to have high levels of luteinizing hormone and total testosterone levels, and imaging revealed a large pelvic abdominal mass in the right ovary. She underwent total hysterectomy with bilateral salpingo-oophorectomy. Microscopy and histopathology confirmed the diagnosis of sertoliform endometrioid carcinoma. Her symptoms improved significantly on follow-up. Androgenic tumors might not be common in premenopausal women; however, it is important to maintain a high level of suspicion in patients presenting with virilizing symptoms especially of rapid progression.

Learning points

  • Our 47-year-old patient presented with virilizing symptoms that were rapidly progressing, which raises the suspicion of an underlying androgen secreting neoplasm.

  • Sertoliform endometrioid carcinoma (SEC) is an extremely rare variant of endometrioid carcinomas and tend to present at an earlier stage as compared to most endometrioid carcinomas of the ovary.

  • Recognition of SEC in virilizing patients is important as it is a well-differentiated, low-grade malignancy with a good prognosis when confined to the ovary.

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Omayma Elshafie Department of Endocrinology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Sultanate of Oman

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Samir Hussein Department of Radiology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Moza Al Kalbani Department of Gynaecology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Sultanate of Oman

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Aisha Al Hamadani Department of Pathology

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Abir Bou Khalil Department of Endocrinology, Sultan Qaboos Comprehensive Cancer Care and Research Centre, Muscat, Sultanate of Oman

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Nicholas Woodhouse Department of Endocrinology, Sultan Qaboos University Hospital, Muscat, Sultanate of Oman

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Summary

A 33-year-old female presented in 2013 with left flank pain. Ultrasound and MRI pelvis showed a complex mass 9 × 7 cm arising from the left ovary suggestive of ovarian torsion. She underwent a laparoscopic cystectomy, but the patient was lost to follow-up. Three years later, she presented with abdominal distension. Ultrasound and CT scan revealed a solid left ovarian mass with ascites and multiple peritoneal metastasis. Investigations showed elevated CA 125, CA 19-9. Ovarian malignancy was suspected. She underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy on November 2016. The histopathology confirmed a well-differentiated thyroid cancer of ovarian origin with features of a papillary follicular variant without evidence of ovarian cancer and the thyroglobulin (Tg) level was elevated, more than 400 consistent with the diagnosis of malignant struma ovarii. The follow-up post-surgery showed normalization of CA 125, CA 19-9 and Tg. The patient underwent total thyroidectomy on January 2017. The histology was benign excluding thyroid cancer metastases to the ovary. She was started on thyroxine suppression, following which she received two ablation doses 131iodine (131I) each 5.3 GBq. The Tg remains slightly elevated at less than 10. 131I WBS showed no residual neck uptake and no distant avid metastasis. She was planned for molecular analysis which may indicate disease severity. We describe a case of malignant struma ovarii with widespread metastatic dissemination and a good response to surgery and 131I treatment without recurrence after 5 years of follow-up. The Tg remains slightly elevated indicating minimal stable residual disease.

Learning points

  • Malignant struma ovarii is a rare disease; diagnosis is difficult and management is not well defined.

  • Presentation may mimic advanced carcinoma of the ovary.

  • Predominant sites of metastasis are adjacent pelvic structures.

  • Thyroidectomy and 131iodine therapy should be considered. The management should be similar to that of metastatic thyroid cancer.

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Inês Vieira Endocrinology Diabetes and Metabolism Department of Coimbra Hospital and Universitary Centre, Coimbra, Portugal

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Sofia Lopes Endocrinology Diabetes and Metabolism Department of Coimbra Hospital and Universitary Centre, Coimbra, Portugal

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Margarida Bastos Endocrinology Diabetes and Metabolism Department of Coimbra Hospital and Universitary Centre, Coimbra, Portugal

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Luísa Ruas Endocrinology Diabetes and Metabolism Department of Coimbra Hospital and Universitary Centre, Coimbra, Portugal

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Dírcea Rodrigues Endocrinology Diabetes and Metabolism Department of Coimbra Hospital and Universitary Centre, Faculty of Medicine of the University of Coimbra, Coimbra, Portugal

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Isabel Paiva Endocrinology Diabetes and Metabolism Department of Coimbra Hospital and Universitary Centre, Coimbra, Portugal

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Summary

The coexistence of neurofibromatosis type 1 (NFT1) and Turner syndrome (TS) has only been reported in a few patients and may represent a diagnostic challenge. We describe the case of a 16-year-old girl, with a prior clinical diagnosis of NFT1, who was referred to Endocrinology appointments for the etiological study of primary amenorrhea. Evaluation of the anterior pituitary function was requested and hypergonadotropic hypogonadism was detected. During the etiological study, a 45X karyotype was found and TS was diagnosed. The fact that NFT1 can also be associated with short stature, short broad neck and hypertelorism was likely responsible for TS being diagnosed in late adolescence. As both TS and NFT1 are relatively common genetic disorders, it is important to be alert to the possibility that the presence of one disease does not invalidate the other.

Learning points

  • The concomitant presence of two syndromes in the same patient is unlikely and represents a diagnostic challenge.

  • Some phenotypic characteristics and clinical manifestations may be shared by several syndromes.

  • Some syndromes, such as neurofibromatosis type 1 may have very heterogeneous presentations.

  • It is important to be alert to the characteristics that are not explained by the initial diagnosis.

  • If such features are present, diagnostic work-up must be performed regardless of the initial syndromic diagnosis.

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Mauricio Alvarez Sanitas EPS, Hospital Militar Central, Bogotá, Colombia

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Oswaldo Rincon Sanitas EPS, Hospital Militar Central, Bogotá, Colombia

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Alejandra Alvarado Sanitas EPS, Bogotá, Colombia

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Francisco Puentes Universidad del Bosque, Bogotá, Colombia

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Summary

We present the case of a 23-year-old patient with maturity-onset diabetes of the young type 3 (MODY 3) and premature ovarian insufficiency (POI). There is no known correlation between MODY 3 and POI, although POI can impair glucose metabolism, and MODY can cause microvascular complications such as POI. We did not find literature describing a correlation between these two pathologies nor did we find similar cases described in the literature.

Learning points

  • Maturity-onset diabetes of the young type 3 (MODY 3) is an infrequent cause of diabetes that should be considered in young patients with atypical presentation of type 1 or type 2 diabetes.

  • MODY 3 can be associated with microvascular complications of diabetes, which is why it is important to diagnose as early as possible.

  • Impairment of glucose metabolism has been demonstrated in patients with premature ovarian insufficiency and menopause.

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Rediet Ambachew Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Amare Gulilat Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Tewodros Aberra Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Zewdu Terefework MRC-ET Advanced Laboratory, Addis Ababa, Ethiopia

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Wubalem Bedilu Department of Radiology, St. Paul’s Hospital Millenium Medical College, Addis Ababa, Ethiopia

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Getahun Tarekegn Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Ahmed Reja Department of Endocrinology, Addis Ababa University, College of Health Sciences, Addis Ababa, Ethiopia

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Summary

Mayer–Rokitansky–Kuster–Hauser syndrome is characterized by congenital absence or hypoplasia of the uterus and upper two-thirds of the vagina in both phenotypically and karyotypically normal females with functional ovaries, whereas gonadal dysgenesis is a primary ovarian defect in otherwise normal 46,XX females. An association between these two conditions is extremely rare. We report a 21-year-old female presented with primary amenorrhea and undeveloped secondary sexual characteristics. The karyotype was 46,XX and the hormonal profile revealed hypothyroidism and hypogonadotropic hypogonadism. Pelvic MRI showed class I Mullerian duct anomaly with ovarian dysgenesis. Ultrasound showed bilateral thyroid hypoplasia and brain MRI suggested anterior pituitary hypoplasia. Levothyroxine and hormone replacement therapy were started.

Learning points

  • The simultaneous presentation of 46,XX gonadal dysgenesis, Mayer–Rokitansky–Kuster–Hauser syndrome, hypothyroidism, and pituitary hypoplasia is a Possibility.

  • Extensive evaluation should be made when a patient presents with one or more of these features.

  • The diagnosis imposes a significant psychological burden on patients and adequate counseling should be provided.

  • Hormone replacement therapy remains the only therapeutic option for the development of secondary sexual characteristics and the prevention of osteoporosis.

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Nur Aisyah Zainordin Internal Medicine Discipline, Faculty of Medicine, University Technology MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia

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Fatimah Zaherah Mohd Shah Internal Medicine Discipline, Faculty of Medicine, University Technology MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia

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Nur Aini Eddy Warman Internal Medicine Discipline, Faculty of Medicine, University Technology MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia

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Sharifah Faradila Wan Muhammad Hatta Internal Medicine Discipline, Faculty of Medicine, University Technology MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia

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Aimi Fadilah Mohamad Internal Medicine Discipline, Faculty of Medicine, University Technology MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia

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Rohana Abdul Ghani Internal Medicine Discipline, Faculty of Medicine, University Technology MARA, Jalan Hospital, Sungai Buloh, Selangor, Malaysia

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Summary

A 17-year-old lady presented with primary amenorrhoea, headache, nausea and lethargy. She had delayed pubertal development that also includes under-developed breast (Tanner Stage 2). Hormonal investigations showed a high serum prolactin level of 1 680 000 mIU/L (normal value: 45–375 mIU/L), with low oestradiol, progesterone, follicular-stimulating hormone and luteinizing hormone. Early morning cortisol level was 206 nmol/L (normal value: >450 nmol/L), thyroxine was 7.5 pmol/L (normal value: 9.0–24.0 pmol/L) with TSH 5.091 mIU/L (normal value: 0.4–4.5 mlU/L). A pituitary MRI showed a 2.7 (AP) × 3.7 (W) × 4.6 cm (CC) macroadenoma, with invasion into the left cavernous sinus and encasement of cavernous portion of the left internal carotid artery. MRI pelvis showed absent uterus, cervix and 2/3 upper vagina confirming Mullerian hypoplasia. Cytogenetics showed 46XX. These findings were suggestive of Mayer–Rokitansky–Kauser–Hauser (MRKH) syndrome with the presence of a pituitary macroprolactinoma and panhypopituitarism. She was treated with hydrocortisone, levothyroxine and cabergoline. Repeated MRI showed a reduction in tumour size by approximately 50%. This case illustrated a rare coexistence of these two conditions, being only the third reported case in the world. In addition, this would be the first case of a functioning pituitary adenoma in a patient with MRKH syndrome.

Learning points

  • Comprehensive hormonal and radiological investigations are important in the management of a young patient with primary amenorrhoea.

  • Coexistence pathology of two separate pathologies should be considered in patient presenting with primary amenorrhoea.

  • Early diagnosis of MRKH or any disorders of sex development should be treated early, providing pharmacological, surgical, psychological and emotional support to the patient and reducing risk of associated complications.

  • Abnormal pituitary hormones, particularly panhypopituitarism, would impose greater impact not only psychologically but also metabolically leading to cardiovascular, morbidity and mortality risks in this patient if not treated early.

  • A multidisciplinary approach is necessary for patients presenting with MRKH to ensure appropriate treatments and follow-up across the lifespan of the patient.

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Jin Hui Ho Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Ana Vetriana Abd Wahab Department of Obstetrics and Gynaecology, Sabah Women and Children Hospital, Kota Kinabalu, Sabah, Malaysia

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Yin Khet Fung Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Serena Sert Kim Khoo Endocrinology Unit, Department of Internal Medicine, Queen Elizabeth Hospital, Kota Kinabalu, Sabah, Malaysia

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Summary

Polycystic ovarian syndrome (PCOS) is associated with menstrual irregularities, ovulatory dysfunction, hirsutism, insulin resistance, obesity and metabolic syndrome but is rarely associated with severe hyperandrogenaemia and virilisation resulting in male pattern baldness and clitoromegaly. Total serum testosterone greater than twice the upper limit of the reference range or free androgen index of over five-fold elevated suggests a diagnosis other than PCOS. We reported a case of a 15 years old obese girl presented with secondary amenorrhoea, virilising signs: frontal baldness, clitoromegaly and prominent signs of insulin resistance and marked acanthosis nigricans. Her total testosterone level was markedly elevated at 9.4 nmol/L (0.5–1.7 nmol/L) and MRI pelvis revealed a right ovarian mass with fat and cystic component and a left polycystic ovary. The patient underwent laparoscopic right ovarian cystectomy and histologically confirmed mature cystic teratoma. Post-operatively, her testosterone level declined but did not normalise, menses resumed but remained irregular. Her fasting insulin was elevated 85.2 mIU/L (3–25 mIU/L) and HOMA-IR was high at 13.1 (>2) with persistent acanthosis nigricans suggesting co-existing HAIR-AN syndrome, an extreme phenotype of polycystic ovarian syndrome.

Learning points:

  • Rapid onset of hyperandrogenic symptoms, especially if associated with signs of virilisation must raise the suspicion of an androgen-secreting tumour.

  • Total serum testosterone greater than twofold the upper limit of the reference range or free androgen indices over fivefold suggest a diagnosis other than polycystic ovarian syndrome (PCOS).

  • High levels of testosterone with normal levels of the DHEA-S suggest an ovarian source.

  • Ovarian androgen-secreting tumour and HAIR-AN syndrome, an extreme spectrum of PCOS can co-exist.

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João José Nunes Roque Department of Endocrinology, Hospital de Santa Maria, Lisboa, Portugal

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Irina Borisovna Samokhvalova Alves Department of Pathology, Hospital de Santa Maria, Lisboa, Portugal

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Ana Maria de Almeida Paiva Fernandes Rodrigues Department of Obstetrics & Gynecology, Hospital de Santa Maria, Lisboa, Portugal

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Maria João Bugalho Department of Endocrinology, Hospital de Santa Maria, Lisboa, Portugal
Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal

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Summary

Menopause is a relative hyperandrogenic state but the development of hirsutism or virilizing features should not be regarded as normal. We report the case of a 62-year-old woman with a 9-month history of progressive frontotemporal hair loss and hirsutism, particularly on her back, arms and forearms. Blood tests showed increased total testosterone of 5.20 nmol/L that remained elevated after an overnight dexamethasone suppression test. Free Androgen Index was 13.1 and DHEAS was repeatedly normal. Imaging examinations to study adrenals and ovaries were negative. The biochemical profile and the absence of imaging in favor of an adrenal tumor made us consider the ovarian origin as the most likely hypothesis. After informed consent, bilateral salpingectomy-oophorectomy and total hysterectomy were performed. Gross pathology revealed ovaries of increased volume and histology showed bilateral ovarian stromal hyperplasia. Testosterone levels normalized after surgery and hirsutism had completely subsided 8 months later.

Learning points:

  • Menopause is a relative hyperandrogenic state

  • Hirsutism and/or virilizing features, in a postmenopausal woman, should raise the hypothesis of a malignant cause

  • In the absence of an identifiable ovarian or adrenal tumor, the ovarian origin remains the most likely

  • Peripheral aromatization of excess androgen may conduct to high levels of estrogen increasing the risk of endometrial cancer

  • Bilateral oophorectomy results in significant clinical improvement.

Open access