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S Livadas Endocrine Unit, Metropolitan Hospital, Athens, Greece

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I Androulakis Endocrine Unit, Metropolitan Hospital, Athens, Greece

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N Angelopoulos Endocrine Unit, Metropolitan Hospital, Athens, Greece

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A Lytras Endocrine Unit, Metropolitan Hospital, Athens, Greece

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F Papagiannopoulos Novo-Nordisk, Athens, Greece

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G Kassi Endocrine Unit, Alexandra Hospital, Athens, Greece

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Summary

HAIR-AN syndrome, the coexistence of Hirsutism, Insulin Resistance (IR) and Acanthosis Nigricans, constitutes a rare nosologic entity. It is characterized from clinical and biochemical hyperandrogenism accompanied with severe insulin resistance, chronic anovulation and metabolic abnormalities. Literally, HAIR-AN represents an extreme case of polycystic ovary syndrome (PCOS). In everyday practice, the management of HAIR-AN constitutes a therapeutic challenge with the available pharmaceutical agents. Specifically, the degree of IR cannot be significantly ameliorated with metformin administration, whereas oral contraceptives chronic administration is associated with worsening of metabolic profile. Liraglutide and exenatide, in combination with metformin, have been introduced in the management of significantly obese women with PCOS with satisfactory results. Based on this notion, we prescribed liraglutide in five women with HAIR-AN. In all participants a significant improvement regarding the degree of IR, fat depositions, androgen levels and the pattern of menstrual cycle was observed, with minimal weight loss. Furthermore, one woman became pregnant during liraglutide treatment giving birth to a healthy child. Accordingly, we conclude that liraglutide constitutes an effective alternative in the management of women with HAIR-AN.

Learning points:

  • HAIR-AN management is challenging and classic therapeutic regimens are ineffective.

  • Literally HAIR-AN syndrome, the coexistence of Hirsutism, Insulin Resistance and Acanthosis Nigricans, represents an extreme case of polycystic ovary syndrome.

  • In cases of HAIR-AN, liraglutide constitutes an effective and safe choice.

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N F Lenders Diabetes and Metabolism, Garvan Institute of Medical Research, Sydney, New South Wales, Australia
Department of Endocrinology, St Vincent’s Hospital, Sydney, New South Wales, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia

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J R Greenfield Diabetes and Metabolism, Garvan Institute of Medical Research, Sydney, New South Wales, Australia
Department of Endocrinology, St Vincent’s Hospital, Sydney, New South Wales, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, New South Wales, Australia

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Summary

Adrenal oncocytomas are rare tumours, with only approximately 160 cases reported in the literature. We report the use of urinary steroid profiling as part of their diagnostic evaluation and prognostication. A 45-year-old woman presented with clinical features of hyperandrogenism. Serum biochemistry confirmed androgen excess and computed tomography (CT) demonstrated a 3.2 cm adrenal tumour with density 39 HU pre-contrast. Urine steroid profiling showed elevated tetrahydro-11 deoxycortisol (THS), which is associated with adrenal malignancy. Laparoscopic adrenalectomy was performed, and histopathology diagnosed adrenal oncocytoma. Serum and urinary biochemistry resolved post-operatively and remained normal at 1-year follow-up.

Learning points:

  • Differential diagnosis of adrenal masses is challenging. Current techniques for differentiating between tumour types lack sensitivity and specificity.

  • 24-h urinary steroid profiling is a useful tool for reflecting steroid output from adrenal glands. Gas chromatography-mass spectrometry (GC-MS) of urinary steroid metabolites has sensitivity and specificity of 90% for diagnosing adrenocortical carcinoma.

  • Adrenal oncocytoma are rare tumours. Differentiating between benign and malignant types is difficult. Data guiding prognostication and management are sparse.

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E Bahaeldein Endocrinology, South Tipperary General Hospital, Clonmel, Ireland

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M J Brassill Endocrinology, South Tipperary General Hospital, Clonmel, Ireland

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Summary

Postmenopausal hyperandrogenism is a relatively rare diagnosis resulting from excess androgen production from the adrenals or ovaries. The exclusion of malignant causes is a priority. Laboratory tests and imaging are utilised to help differentiate the source of excess androgens. We report two cases of postmenopausal hyperandrogenism in women aged 75 and 67 years. Both cases presented with clinical features suggestive of hyperandrogenism which had developed gradually over the previous 2 years. Laboratory investigations confirmed a significant elevation in their serum testosterone levels. In both cases, imaging did not reveal any abnormality of the adrenals or ovaries. To help differentiate an adrenal vs ovarian source a single-dose GnRH analogue was given with measurement of testosterone and gonadotrophin levels pre and post. The reduction in gonadotrophins achieved by the GnRH analogue resulted in suppression of testosterone levels which suggested an ovarian source. Both patients proceeded to bilateral oophorectomy. Histology revealed a benign hilus cell tumour in one case and a benign Leydig cell tumour in the other.

Learning points:

  • A key part of the work-up of postmenopausal hyperandrogenism is to differentiate between an adrenal or an ovarian source of excess androgens;

  • Imaging may not identify small ovarian tumours or hyperthecosis and may also identify incidental adrenal masses which are non-functioning;

  • Current guidelines suggest ovarian and adrenal venous sampling when imaging is inconclusive but this requires technical expertise and has a high failure rate;

  • GnRH analogue use can successfully confirm ovarian source and should be considered as a diagnostic tool in this setting.

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Khaled Aljenaee Department of Endocrinology, Royal College of Surgeons in Ireland, Connolly Hospital Blanchardstown, Dublin, Ireland

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Sulaiman Ali Departments of Endocrinology

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Seong Keat Cheah Department of Endocrinology, Royal College of Surgeons in Ireland, Connolly Hospital Blanchardstown, Dublin, Ireland

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Owen MacEneaney Histopathology, Mater Misericordiae University Hospital, Dublin, Ireland

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Niall Mulligan Histopathology, Mater Misericordiae University Hospital, Dublin, Ireland

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Neil Hickey Department of Radiology, Connolly Hospital Blanchardstown, Dublin, Ireland

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Tommy Kyaw Tun Department of Endocrinology, Royal College of Surgeons in Ireland, Connolly Hospital Blanchardstown, Dublin, Ireland

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Seamus Sreenan Department of Endocrinology, Royal College of Surgeons in Ireland, Connolly Hospital Blanchardstown, Dublin, Ireland

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John H McDermott Department of Endocrinology, Royal College of Surgeons in Ireland, Connolly Hospital Blanchardstown, Dublin, Ireland

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Markedly elevated androgen levels can lead to clinical virilization in females. Clinical features of virilization in a female patient, in association with biochemical hyperandrogenism, should prompt a search for an androgen-producing tumor, especially of ovarian or adrenal origin. We herein report the case of a 60-year-old woman of Pakistani origin who presented with the incidental finding of male pattern baldness and hirsutism. Her serum testosterone level was markedly elevated at 21 nmol/L (normal range: 0.4–1.7 nmol/L), while her DHEAS level was normal, indicating a likely ovarian source of her elevated testosterone. Subsequently, a CT abdomen-pelvis was performed, which revealed a bulky right ovary, confirmed on MRI of the pelvis as an enlarged right ovary, measuring 2.9 × 2.2 cm transaxially. A laparoscopic bilateral salpingo-oophorectomy was performed, and histopathological examination and immunohistochemistry confirmed the diagnosis of a Leydig cell tumor, a rare tumor accounting for 0.1% of ovarian tumors. Surgical resection led to normalization of testosterone levels.

Learning points:

  • Hirsutism in postmenopausal women should trigger suspicion of androgen-secreting tumor

  • Extremely elevated testosterone level plus normal DHEAS level point toward ovarian source

  • Leydig cell tumor is extremely rare cause of hyperandrogenicity

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Athanasios Fountas Departments of Endocrinology

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Zoe Giotaki Departments of Endocrinology

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Evangelia Dounousi Nephrology, University Hospital of Ioannina, Ioannina, Greece

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George Liapis Nephrology, University Hospital of Ioannina, Ioannina, Greece

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Alexandra Bargiota Department of Endocrinology and Metabolic Diseases, University Hospital of Larissa, Larissa, Greece

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Agathocles Tsatsoulis Departments of Endocrinology

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Stelios Tigas Departments of Endocrinology

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Summary

Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans. Laboratory investigations revealed hyperandrogenism, hyperlipidemia, elevated serum creatine kinase and mild proteinuria. A clinical diagnosis of FPLD of the non-Dunnigan variety was made; genetic testing revealed a heterozygous c.1045C > T mutation in exon 6 of the LMNA gene, predicted to result in an abnormal LMNA protein (p.R349W). Electromyography and muscle biopsy were suggestive of non-specific myopathy. Treatment with metformin and later with pioglitazone was initiated. Due to worsening proteinuria, a renal biopsy was performed; histological findings were consistent with mild focal glomerular mesangioproliferative changes, and the patient was started on angiotensin-converting enzyme inhibitor therapy. This is the fourth report of FPLD associated with the c.1045C > T missense LMNA mutation and the second with co-existent proteinuric renal disease. Patients carrying this specific mutation may exhibit a phenotype that includes partial lipodystrophy, proteinuric nephropathy, cardiomyopathy and atypical myopathy.

Learning points:

  • Lipodystrophy is a rare disorder characterized by the complete or partial loss of subcutaneous adipose tissue, insulin resistance, diabetes mellitus and hyperlipidemia.

  • Proteinuric renal disease is a prevalent feature of generalized lipodystrophy but rare in familial partial lipodystrophy.

  • Patients carrying the c.1045C > T missense LMNA mutation (p.R349W) may present with familial partial lipodystrophy, proteinuric nephropathy, cardiomyopathy and atypical myopathy.

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Katia Regina Marchetti Department of General Medicine

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Maria Adelaide Albergaria Pereira Department of Endocrinology, Clinics Hospital, University of Sao Paulo School of Medicine, Sao Paulo, SP, Brazil

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Arnaldo Lichtenstein Department of General Medicine

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Edison Ferreira Paiva Department of General Medicine

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Summary

Adrenacarcinomas are rare, and hypoglycemic syndrome resulting from the secretion of insulin-like growth factor II (IGF-II) by these tumors have been described infrequently. This study describes the case of a young woman with severe persistent hypoglycemia and a large adrenal tumor and discusses the physiopathological mechanisms involved in hypoglycemia. The case is described as a 21-year-old woman who presented with 8 months of general symptoms and, in the preceding 3 months, with episodes of mental confusion and visual blurring secondary to hypoglycemia. A functional assessment of the adrenal cortex revealed ACTH-independent hypercortisolism and hyperandrogenism. Hypoglycemia, hypoinsulinemia, low C-peptide and no ketones were also detected. An evaluation of the GH–IGF axis revealed GH blockade (0.03; reference: up to 4.4 ng/mL), greatly reduced IGF-I levels (9.0 ng/mL; reference: 180–780 ng/mL), slightly reduced IGF-II levels (197 ng/mL; reference: 267–616 ng/mL) and an elevated IGF-II/IGF-I ratio (21.9; reference: ~3). CT scan revealed a large expansive mass in the right adrenal gland and pulmonary and liver metastases. During hospitalization, the patient experienced frequent difficult-to-control hypoglycemia and hypokalemia episodes. Octreotide was ineffective in controlling hypoglycemia. Due to unresectability, chemotherapy was tried, but after 3 months, the patient’s condition worsened and progressed to death. In conclusion, our patient presented with a functional adrenal cortical carcinoma, with hyperandrogenism associated with hypoinsulinemic hypoglycemia and blockage of the GH–IGF-I axis. Patient’s data suggested a diagnosis of hypoglycemia induced by an IGF-II or a large IGF-II-producing tumor (low levels of GH, greatly decreased IGF-I, slightly decreased IGF-II and an elevated IGF-II/IGF-I ratio).

Learning points:

  • Hypoglycemyndrome resulting from the secretion of insulin-like growth factor II (IGF-II) by adrenal tumors is a rare condition.

  • Hypoinsulinemic hypoglycemia associated with hyperandrogenism and blockage of the GH–IGF-I axis suggests hypoglycemia induced by an IGF-II or a large IGF-II-producing tumor.

  • Hypoglycemia in cases of NICTH should be treated with glucocorticoids, glucagon, somatostatin analogs and hGH.

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Renata Lange Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil

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Caoê Von Linsingen Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil

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Fernanda Mata Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil

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Aline Barbosa Moraes Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro, Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913, Brazil

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Mariana Arruda Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro, Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913, Brazil

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Leonardo Vieira Neto Endocrine Section, Hospital Federal da Lagoa, Rio de Janeiro, Brazil
Department of Internal Medicine and Endocrine Section, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal de Rio de Janeiro, Rua Prof. Rodolpho Paulo Rocco, 255, 9th Floor, Ilha do Fundão, Rio de Janeiro, 21941-913, Brazil

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Summary

Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that have not yet been reported. A 20-year-old female patient had facial dysmorphism, short stature, psychomotor developmental delays, a ventricular septal defect, and thrombocytopenia. Karyotyping demonstrated RC11 (46,XX,r(11)(p15q25)). This patient presented with clinical features that may be related to Jacobsen syndrome, which is caused by partial deletion of the long arm of chromosome 11. Regarding endocrine abnormalities, our patient presented with precocious puberty followed by severe hirsutism, androgenic alopecia, clitoromegaly, and amenorrhea, which were associated with overweight, type 2 diabetes mellitus (T2DM), and hyperinsulinemia; therefore, this case meets the diagnostic criteria for polycystic ovary syndrome. Endocrine abnormalities are rare in patients with RC11, and the association of RC11 with precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM has not been reported previously. We speculate that gene(s) located on chromosome 11 might be involved in the pathogenesis of these conditions. Despite the rarity of RCs, studies to correlate the genes located on the chromosomes with the phenotypes observed could lead to major advances in the understanding and treatment of more prevalent diseases.

Learning points

  • We hypothesize that the endocrine features of precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM might be associated with 11q-syndrome.

  • A karyotype study should be performed in patients with short stature and facial dysmorphism.

  • Early diagnosis and adequate management of these endocrine abnormalities are essential to improve the quality of life of the patient and to prevent other chronic diseases, such as diabetes and its complications.

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