Publication Details > Case Report Type

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Katherine Wu Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Shejil Kumar Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Ed Hsiao Department of Radiology, Royal North Shore Hospital, Sydney, Australia

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Ian Kerridge Department of Haematology, Royal North Shore Hospital, Sydney, Australia

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Min Ru Qiu Department of Anatomical Pathology, SydPath, St Vincent’s Hospital, Sydney, Australia
St Vincent’s Clinical School, University of New South Wales, Sydney, Australia

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Rhonda Siddall Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia

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Roderick Clifton-Bligh Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, Sydney, Australia
Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia

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Anthony J Gill Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia
Department of Anatomical Pathology, Royal North Shore Hospital, Sydney, Australia
Cancer Diagnosis and Pathology Group, Kolling Institute of Medical Research, Sydney, Australia

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Matti L Gild Department of Diabetes, Endocrinology and Metabolism, Royal North Shore Hospital, Sydney, Australia
Cancer Genetics Unit, Kolling Institute of Medical Research, Sydney, Australia
Northern Clinical School, University of Sydney Faculty of Medicine and Health, Sydney, Australia

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Summary

RET mutations are implicated in 60% of medullary thyroid cancer (MTC) cases. The RET-selective tyrosine kinase inhibitor selpercatinib is associated with unprecedented efficacy compared to previous multi-kinase treatments. Langerhans cell histiocytosis (LCH) is a clonal histiocytic neoplasm usually driven by somatic BRAF mutations, resulting in dysregulated MAPK signalling. We describe a 22-year-old woman with metastatic MTC to regional lymph nodes, lung and liver. Tumour tissue harboured a somatic pathogenic RET variant p.(M918T) and selpercatinib was commenced. She experienced sustained clinical, biochemical and radiological responses. Two years later, she developed rapidly progressive apical lung nodules, prompting biopsy. Histopathology demonstrated LCH with a rare BRAF variant p.(V600_K601>D). The lung nodules improved with inhaled corticosteroids. We hypothesize that selective pressure from RET blockade may have activated a downstream somatic BRAF mutation, resulting in pulmonary LCH. We recommend continued vigilance for neoplasms driven by dysregulated downstream MAPK signalling in patients undergoing selective RET inhibition.

Learning points

  • Patients with RET-altered MTC can experience rapid disease improvement and sustained disease stability with selective RET blockade (selpercatinib).

  • LCH is a clonal neoplasm driven by MAPK activation, for which the most common mechanism is BRAF mutation.

  • Both MTC and pulmonary LCH are driven by dysregulated MAPK signalling pathway activation.

  • We hypothesise that the RET-specific inhibitor selpercatinib may have caused the activation of dormant LCH secondary to selective pressure and clonal proliferation.

Open access
R K Dharmaputra Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia
Gold Coast Hospital and Health Service, Gold Coast, Cairns, Queensland, Australia

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C M Piesse Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia

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S Chaubey Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia

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A K Sinha Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Endocrinolgy and Diabetes, Cairns Hospital, Cairns, Queensland, Australia
Cairns Diabetes Centre, Cairns, Queensland, Australia

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H C Chiam Cairns and Hinterland Hospital and Health Service, Cairns, Queensland, Australia
Department of Surgery, Cairns Hospital, Cairns, Queensland, Australia

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Summary

A 48-year-old Asian male, presented to the hospital for an elective total thyroidectomy in the context of 6.3 cm thyroid nodule. The fine needle aspiration cytology of the nodule confirmed papillary thyroid cancer (PTC) with some atypical histiocytes. He has a history of idiopathic arginine vasopressin deficiency (AVP-D) and has been taking oral DDAVP 100 µg daily, self-adjusting the dose based on thirst and polyuria. Additionally, he also has a history of recurrent spontaneous pneumothorax. His total thyroidectomy was aborted due to significant intraoperative bleeding, and his admission was further complicated by post-operative hyponatraemic seizure. Thyroid histology revealed the diagnosis of Langerhans cell histiocytosis (LCH), and further investigation with contrast CT demonstrated multi-organ involvement of the thyroid, lungs, and bones.

Learning points

  • Langerhans cell histiocytosis (LCH) is a condition that can affect one or more organ systems, including the pituitary, where it can present as AVP deficiency. Strict monitoring of fluid balance, as well as serial monitoring of serum sodium, is essential in all patients with AVP-D in the perioperative setting.

  • Iatrogenic hyponatraemic seizure is an uncommon but serious complication of DDAVP treatment in hospitalised patients with AVP-D. DDAVP dosing must be carefully monitored.

  • LCH with multisystem involvement is an important mimic for metastatic conditions, and histological diagnosis is essential to guide treatment and prognosis.

  • Although LCH without bone marrow involvement is unlikely to increase the risk of bleeding, its effect on tissue integrity may make surgery more challenging.

  • BRAF-V600E mutation is an important driver mutation and a potential therapeutic target in the treatment of LCH.

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Viviana Ostrovsky Kaplan Medical Center, Diabetes, Endocrinology and Metabolic Disease Institute, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Mira Ulman Endocrinology Laboratory, Kaplan Medical Center, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Rina Hemi Endocrine Laboratory, Division of Endocrinology, Diabetes and Metabolism, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel

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Samuel Lurie Women’s Health Center, Ramat Aviv Gimel, Clalit Health Services, Tel Aviv, Israel

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Inon Hazan Kaplan Medical Center, Gynecology Department, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Alon Ben Ari Kaplan Medical Center, Gynecology Department, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Oleg Sukmanov Kaplan Medical Center, Pathology Department, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Tal Schiller Kaplan Medical Center, Diabetes, Endocrinology and Metabolic Disease Institute, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Alena Kirzhner Kaplan Medical Center, Diabetes, Endocrinology and Metabolic Disease Institute, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Taiba Zornitzki Kaplan Medical Center, Diabetes, Endocrinology and Metabolic Disease Institute, Hebrew University of Jerusalem, Medical School, Rehovot, Israel

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Summary

Total testosterone, which is peripherally converted to its biologically active form dihydrotestosterone (DHT), is the first-line hormone investigation in hyperandrogenic states and infertility in premenopausal women. Polycystic ovary syndrome (PCOS), the most common cause of hyperandrogenism and infertility in young women, is often associated with mild elevations of total testosterone. Whereas very high levels of total testosterone (>2–3 SD of normal reference), are most often associated with hyperandrogenic signs, menstrual irregularity, rapid onset of virilization, and demand a prompt investigation. Herein, we report a case of a 32-year-old woman who was referred to the endocrinology outpatient clinic due to secondary amenorrhea and extremely high testosterone levels without any virilization signs. We initially suspected pitfalls in the testosterone laboratory test. Total serum testosterone decreased after a diethyl-ether extraction procedure was done prior to the immunoassay, but testosterone levels were still elevated. An ovarian steroid-cell tumor (SCT) was then revealed, which was thereby resected. Twenty-four hours post surgery, the total testosterone level returned to normal, and a month later menstruation resumed. This case emphasizes that any discrepancy between laboratory tests and the clinical scenario deserves a rigorous evaluation to minimize misinterpretation and errors in diagnosis and therapeutic approach. Additionally, we describe a possible mechanism of disease: a selective peripheral target-tissue response to high testosterone levels that did not cause virilization but did suppress ovulation and menstruation.

Learning points

  • Total testosterone is the most clinically relevant hormone in investigating hyperandrogenic states and infertility in premenopausal women.

  • Very high total testosterone levels in women (>2–3 SD of normal reference) are most often associated with hyperandrogenic signs, menstrual irregularities, and a rapid onset of virilization.

  • In women with very elevated testosterone levels and the absence of clinical manifestations, laboratory interference should be suspected, and diethyl ether extraction is a useful technique when other methods fail to detect it.

  • Ovarian steroid cell tumors (SCT) encompass a rare subgroup of sex cord-stromal tumors and usually secrete androgen hormones. SCTs are clinically malignant in 25–43% of cases.

  • A selective response of peripheral target tissues to testosterone levels, with clinical manifestations in some tissues and no expression in others, may reflect differences in the conformation of tumor-produced testosterone molecules.

Open access
Kanella Kantreva Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Stavroula A Paschou Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Katerina Stefanaki Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Kanella Pappa Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Paraskevi Kazakou Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Dionysios Vrachnis Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Evangelia Kavoura Pathology Department, IASO Hospital, Athens, Greece

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Kitty Pavlakis Pathology Department, IASO Hospital, Athens, Greece

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Eirini Giovannopoulou Department of Gynecological Oncology, IASO Hospital, Athens, Greece

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Konstantinos Lathouras Department of Gynecological Oncology, IASO Hospital, Athens, Greece

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Maria Alevizaki Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Katerina Saltiki Endocrine Unit and Diabetes Center, Department of Clinical Therapeutics, Alexandra Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

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Summary

Struma ovarii is an ovarian teratoma that comprises 2–5% of all ovarian teratomas. Malignant transformation of struma ovarii occurs in less than 5% of all cases, and metastatic disease is even rarer. We report two cases initially diagnosed with benign struma ovarii that presented malignant transformation, specifically highly differentiated follicular carcinoma of the ovary (HDFCO), some years after the first diagnosis. Case 1 concerns a 37-year-old female featuring HDFCO of the right ovary with multiple metastatic foci, who was diagnosed with benign struma ovarii 14 years ago. Case 2 concerns a 26-year-old female diagnosed with HDFCO of the left ovary. This patient was initially diagnosed with benign struma ovarii 6 years ago that recurred 4 years after the diagnosis. Both patients were treated with surgery, adjunctive total thyroidectomy, and radioactive iodine (131I) therapy.

Learning points

  • Malignant transformation of struma ovarii is very rare (<5%).

  • Diagnosis of HDFCO without extra ovarian dissemination is difficult due to the resemblance of its histological appearance with normal thyroid tissue.

  • There is no consensus on the postoperative treatment of malignant struma ovarii (MSO). Clinical and histological features of MSO should be assessed for the postoperative treatment decisions.

  • TSH suppression and thyroglobulin level measurements are necessary for patient follow-up.

Open access
Christina Lee Department of Pediatrics, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Leah Hirschman Department of Pediatrics, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Teresa York Department of Pediatric Hematology/Oncology, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Paula Newton Department of Pediatric Endocrinology, University of Maryland Children’s Hospital, Baltimore, Maryland, USA

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Summary

Neonatal adrenal hemorrhage (NAH) occurs in up to 3% of infants and is the most common adrenal mass in newborns. The most common presentation of NAH is an asymptomatic palpable flank mass which resolves over time without intervention. In rare cases, NAH can present as hemorrhage, shock, or adrenal insufficiency. This case describes a preterm infant born with severe anemia in the setting of bilateral adrenal hemorrhages with resulting adrenal insufficiency. The infant was successfully treated with blood transfusions and steroids. This is a unique presentation of NAH as it was bilateral, presented with severe anemia, and resulted in prolonged adrenal insufficiency.

Learning points

  • Consider adrenal hemorrhage for cases of severe anemia at birth.

  • Adrenal insufficiency is a rare complication of adrenal hemorrhage.

  • Adrenal recovery can take months, if not years.

Open access
Sarah N Parry Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, Australia
Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

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Namson S Lau Metabolism & Obesity Services, Royal Prince Alfred Hospital, Sydney, Australia
Liverpool Diabetes Collaboration, Ingham Institute of Applied Medical Research, Sydney, Australia
South West Clinical School, University of New South Wales, Sydney, Australia

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Summary

Approximately 80% of adrenal incidentalomas are benign, and development into adrenal cortical cancer is extremely rare. This is a major reason behind clinical guidelines recommending surveillance of incidentalomas for a relatively short duration of up to 5 years. Surveillance of lesions less than 1 cm is not routinely recommended. A 70-year-old lady was diagnosed with a non-hyperfunctioning 8 mm right adrenal lesion. She underwent annual biochemical and radiological assessment for 5 years before surveillance was extended to 2-yearly intervals. The lesion was stable in size, and radiological characteristics were consistent with a benign adenoma. Seven years after the initial detection of the adrenal lesion, she developed acute abdominal pain. Imaging revealed a 7 cm right adrenal lesion, which was surgically resected and histologically confirmed to be adrenal cortical cancer. She died 1 year later. Clinical guidelines have moved towards a shortened duration of surveillance of incidentalomas. Even though malignant transformation is a rare event, it is possible that this will result in a delayed diagnosis of adrenal cortical cancer, a highly aggressive malignancy with a poor prognosis. To our knowledge, this is the first published case of an adrenal lesion of less than 1 cm developing into adrenal cortical cancer.

Learning points

  • Adrenal incidentalomas are increasingly common.

  • Clinical practice guidelines exist to aid in differentiating benign and malignant lesions and assessing functional status.

  • Transformation of adrenal incidentalomas to adrenal cortical carcinomas is a rare but recognised event.

Open access
Stephanie Patrick Division of Endocrinology, Department of Medicine, The University of Tennessee, Memphis, Tennessee, USA

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Deirdre James Division of Endocrinology, Department of Medicine, The University of Tennessee, Memphis, Tennessee, USA

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Summary

Thyroid cancer is one of the most common manifestations of Cowden syndrome, yet the syndrome is rare. The incidence of Cowden syndrome is 1 in 200,000. The diagnosis can be made clinically when patients present with a combination of symptoms such as mucocutaneous lesions with a strong personal or family history of thyroid, breast, endometrial, and colorectal cancer. A high index of suspicion is required to provide a clinical diagnosis utilizing major and minor criteria. Once a clinical diagnosis is made, genetic testing for a PTEN mutation, a tumor suppressor gene, is recommended. Cancer surveillance should be performed for those with positive genetic testing as well as those with negative genetic testing who still meet clinical diagnostic criteria. We present two cases of Cowden syndrome: one case involving an increasing number of thyroid nodules in a patient with known Cowden syndrome and another patient with a strong family history of cancer, personal history of follicular thyroid cancer, and numerous colonic polyps on screening colonoscopy. These cases demonstrate how early diagnosis of Cowden syndrome can help detect early cancer in both the patient and affected relatives.

Learning points

  • Diagnosing Cowden syndrome helps pre-risk stratification for early cancer screening.

  • The diagnosis of Cowden syndrome can be made with a combination of major and minor criteria: any two major criteria with or without a minor criterion; one major and one minor criterion; or three minor criteria.

  • Patients who meet the diagnostic criteria for Cowden syndrome should undergo genetic screening.

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Noor Alnasrallah Department of Internal Medicine, Adan Hospital, Kuwait

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Khaled Aljenaee Department of Internal Medicine, Endocrine and diabetes division, Adan Hospital, Kuwait

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Maryam AlMurshed Department of Laboratory Medicine, Anatomical Pathology/Neuropathology Division, Sabah Hospital, Kuwait

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Sulaiman Hajji Department of Internal Medicine, Endocrine and diabetes division, Adan Hospital, Kuwait

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Summary

Gonadotroph adenomas are the most common type of nonfunctional pituitary adenomas. However, functioning gonadotroph adenomas causing clinical manifestations are rare. We present the case of a 42-year-old man with an incidental finding of a pituitary gland mass. A pituitary MRI revealed a 3 cm macroadenoma, and laboratory investigations revealed elevated follicle-stimulating hormone (FSH) and total testosterone levels. A diagnosis of functioning FSH-secreting pituitary adenoma was considered, with possible concomitant luteinizing hormone secretion, given the elevated testosterone, prompting further evaluation. Testicular ultrasound showed bilaterally enlarged testicles, and visual field testing revealed a monocular superior temporal defect. Transsphenoidal resection of pituitary adenoma was the treatment of choice. Histopathology assessment confirmed the diagnosis of gonadotroph-secreting adenoma, with positive staining for FSH. Within the 12-week postoperative period, FSH and testosterone levels normalized, and the patient experienced significant improvement in vision, along with the resolution of macroorchidism. While functional gonadotroph adenomas are rare, patients can present with a wide range of symptoms that are often unnoticeable due to their slow development. Careful evaluation can help guide multidisciplinary management to achieve full remission.

Learning points

  • Endocrine evaluation is indicated in all cases of pituitary incidentalomas to determine functional status.

  • Clinically functioning gonadotroph adenomas, while rare, pose a diagnostic challenge and require careful clinical evaluation.

  • Transsphenoidal surgery is the mainstay of treatment of functioning gonadotroph adenomas, with the involvement of a multidisciplinary team to achieve desirable outcomes.

Open access
S Chew Sue Mei Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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N Pritchard Department of Renal Medicine, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK

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H Grayton Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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I Simonicova Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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S M Park Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

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A I Adler Wolfson Diabetes and Endocrine Clinic, Cambridge University Hospital NHS Foundation Trust, Cambridge, UK
University of Oxford Diabetes Trials Unit, Oxford, UK

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Summary

Kabuki syndrome is a genetic disorder characterised by distinctive facial features, developmental delays, and multisystem congenital anomalies. Endocrine complications such as premature thelarche and short stature are common, whereas disorders of glycaemic control are less frequent. We describe a 23-year-old white female referred to the diabetes clinic for hyperglycaemia during haemodialysis. She was subsequently diagnosed with Kabuki syndrome based on characteristic clinical features, confirmed by detecting a heterozygous pathogenic variant in KMT2D. She was known to have had multiple congenital anomalies at birth, including complex congenital heart disease and a single dysplastic ectopic kidney, and received a cadaveric transplanted kidney at the age of 13. She had hyperglycaemia consistent with post-transplant diabetes mellitus (DM) and was started on insulin. Examination at the time revealed truncal obesity. She developed acute graft rejection and graft failure 14 months post-transplant and she was started on haemodialysis. Her blood glucose levels normalised post-graft explant, but she was hyperglycaemic again during haemodialysis at the age of 23. Given her clinical phenotype, negative diabetes antibodies and normal pancreas on ultrasound, she was assumed to have type 2 DM and achieved good glycaemic control with gliclazide.

Learning points

  • Involve clinical genetics early in the investigative pathway of sick neonates born with multiple congenital anomalies to establish a diagnosis to direct medical care.

  • Consider the possibility of Kabuki syndrome (KS) in the differential diagnoses in any neonate with normal karyotyping or microarray analysis and with multiple congenital anomalies (especially cardiac, renal, or skeletal), dysmorphic facial features, transient neonatal hypoglycaemia and failure to thrive.

  • Consider the possibility of diabetes as an endocrine complication in KS patients who are obese or who have autoimmune disorders.

Open access
Takuya Kitamura Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Department of Endocrinology, Metabolism, and Hypertension Research, Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kazutaka Nanba Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Department of Endocrinology, Metabolism, and Hypertension Research, Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kento Doi Department of Neurosurgery, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Naoya Kishimoto Department of Obstetrics and Gynecology, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Kaoru Abiko Department of Obstetrics and Gynecology, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Ryo Kuwahara Department of Radiology, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Koki Moriyoshi Department of Diagnostic Pathology, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Naoko Inoshita Department of Pathology, Moriyama Memorial Hospital, Tokyo, Japan

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Tetsuya Tagami Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan
Department of Endocrinology, Metabolism, and Hypertension Research, Clinical Research Institute, National Hospital Organization Kyoto Medical Center, Kyoto, Japan

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Summary

Functioning gonadotroph tumors are rare neoplasms that can cause ovarian hyperstimulation syndrome (OHSS) in women of reproductive age. Here, we present a case of a follicle-stimulating hormone (FSH)-producing pituitary neuroendocrine tumor (PitNET) with irregular menstrual cycles and OHSS in a Japanese woman. A 34-year-old woman with bilateral multi-cystic ovarian mass was referred to our hospital for ovarian surgery. The imaging feature of magnetic resonance imaging (MRI) of the ovary and elevated estradiol levels with normal FSH and low luteinizing hormone (LH) levels led us to suspect the presence of a functioning gonadotroph PitNET. MRI revealed a 19-mm pituitary tumor, and increased tracer uptake was observed in the pituitary lesion on 111In-pentetreotide scintigraphy. Transsphenoidal tumor resection resulted in the resolution of the ovarian enlargement, normalization of her menstrual cycles, and spontaneous pregnancy. Immunohistochemistry (IHC) of the resected tumor for pituitary transcription factors, including steroidogenesis factor 1 (SF1) and estrogen receptor alpha, demonstrated positive immunoreactivity, whereas IHC for pituitary-specific positive transcription factor 1 was negative, suggesting that the tumor belonged to the SF1 lineage of PitNETs (gonadotroph tumor). The tumor cells showed positive expression of FSHβ, while LHβ was mostly negative. Consistent with the high pituitary tumor uptake observed on 111In-pentetreotide scintigraphy, the pituitary tumor showed positive expression of somatostatin receptor 2A. Detailed clinical and histological evaluations will provide useful information to understand these rare functioning gonadotroph tumors better.

Learning points

  • Functioning gonadotroph tumors are very rare neuroendocrine tumors of pituitary origin.

  • Women of reproductive age presenting with bilateral multi-cystic ovarian enlargement, irregular menstrual cycles, and hyperestrogenemia under unsuppressed follicle-stimulating hormone (FSH) levels should be evaluated for FSH-producing tumor.

  • Raising awareness of OHSS due to functioning gonadotroph tumors is crucial to prevent unnecessary ovarian surgery.

  • Comprehensive histological analysis may provide useful information to better understand the characteristics of functioning gonadotroph tumors.

Open access