Related Disciplines > Psychology/Psychiatry

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Pranav Gupta Division of Endocrinology, Department of Pediatrics, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA

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Karen Loechner Division of Endocrinology, Department of Pediatrics, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA
Division of Endocrinology, Department of Pediatrics, Connecticut Childrens Medical Center, Farmington, Connecticut, USA

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Briana C Patterson Division of Endocrinology, Department of Pediatrics, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA
Aflac Cancer and Blood Disorders Center of Children’s Healthcare of Atlanta, Atlanta, Georgia, USA

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Eric Felner Division of Endocrinology, Department of Pediatrics, Children’s Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA

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Summary

Insulinomas are a rare cause of persistent hypoglycemia in a previously healthy child. In addition to symptoms of hypoglycemia, individuals with insulinomas usually present with a history of incessant caloric intake and weight gain due to a constant need to counter hypoglycemia. In addition to an extensive review of the literature, we report the first case of an insulinoma coexisting with reduced appetite secondary to anorexia nervosa in an adolescent female.

Learning points

  • Eliciting a detailed family history is important in hypoglycemia cases.

  • Obtaining a thorough dietary intake, weight history, and menstrual cycles (in females) and considering a psychiatric consultation for an eating disorder when indicated.

  • Although rare in the pediatric population, multiple endocrine neoplasia type 1 syndrome should be considered in the evaluation of children and adolescents with hypoglycemia who also have a family history of pituitary, pancreatic, and/or parathyroid endocrinopathies.

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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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Darran Mc Donald Department of Medicine, Mayo University Hospital, Mayo, Ireland
Department of Endocrinology, St Vincent’s University Hospital, Dublin, Ireland

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Tara Mc Donnell Department of Medicine, Mayo University Hospital, Mayo, Ireland

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Rachel Katherine Crowley Department of Endocrinology, St Vincent’s University Hospital, Dublin, Ireland
School of Medicine, University College Dublin, Dublin, Ireland

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Elizabeth Brosnan Department of Medicine, Mayo University Hospital, Mayo, Ireland

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Summary

Hyponatraemia is the most common electrolyte disturbance in hospitalised patients and is associated with numerous adverse outcomes. Patients with schizophrenia are particularly susceptible to hyponatraemia, in part due to the close association between this condition and primary polydipsia. We report the case of a 57-year-old woman with schizophrenia and primary polydipsia who was receiving inpatient psychiatric care. She became increasingly confused, had multiple episodes of vomiting, and collapsed 1 week after being commenced on quetiapine 300 mg. On examination, she was hypertensive and her Glasgow coma scale was nine. She had a fixed gaze palsy and a rigid, flexed posture. Investigations revealed extreme hyponatraemia with a serum sodium of 97 mmol/L. A CT brain demonstrated diffused cerebral oedema with sulcal and ventricular effacement. A urine sodium and serum osmolality were consistent with SIAD, which was stimulated by the introduction of quetiapine. The antidiuretic effect of vasopressin limited the kidney’s ability to excrete free water in response to the patients' excessive water intake, resulting in extreme, dilutional hyponatraemia. The patient was treated with two 100 mL boluses of hypertonic 3% saline but deteriorated further and required intubation. She had a complicated ICU course but went on to make a full neurological recovery. This is one of the lowest sodium levels attributed to primary polydipsia or second-generation antipsychotics reported in the literature.

Learning points

  • The combination of primary polydipsia and SIAD can lead to a life-threatening, extreme hyponatraemia.

  • SIAD is an uncommon side effect of second-generation anti-psychotics.

  • Serum sodium should be monitored in patients with primary polydipsia when commencing or adjusting psychotropic medications.

  • Symptomatic hyponatraemia is a medical emergency that requires treatment with boluses of hypertonic 3% saline.

  • A serum sodium of less than 105 mmol/L is associated with an increased risk of osmotic demyelination syndrome, therefore the correction should not exceed 8 mmol/L over 24 h.

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Salvatore Cannavò Unit of Endocrinology of Department of Human Pathology, University of Messina, Messina, Italy

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Serafinella Patrizia Cannavò Unit of Dermatology of Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy

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Summary

Factitious Cushing’s syndrome (CS) is a very rare form of Münchausen syndrome. Its presentation and course are extremely heterogeneous, and diagnosis is generally challenging. We report the case of a 52-year-old woman who was initially investigated because of the occurrence of cushingoid features. Nevertheless, endocrine work-up showed very low morning plasma ACTH and serum cortisol levels. In addition, it also demonstrated central hypopituitarism and hypogonadotropic hypogonadism. Head MRI showed a small pituitary mass. Based on these results, and probably overlooking the initial clinical suspicion, general practitioner (GP) referred the patient to our Endocrine Unit for hypopituitarism. At inspection, moon face, central obesity, and bruising were evident. Multiple ulcerative skin lesions were also concentrated in the right arm and leg. Dermatology evaluation suggested that the lesions were self-provoked. For several days, the patient denied the assumption of corticosteroids, but we finally discovered that the GP’ nurse had prescribed betamethasone without the GP’s knowledge for about 2 years. In conclusion, the surreptitious assumption of corticosteroids is very rare, but the physicians should be aware that pituitary function could be impaired by high doses of corticosteroids, mimicking hypopituitarism. In these patients, a multidisciplinary approach and environmental investigation can be useful to diagnose factitious CS.

Learning points

  • Surreptitious assumption of corticosteroids can cause heterogeneous presentation, ranging from Cushing’s syndrome to multiple hypopituitarism.

  • Suppression of ACTH and cortisol levels in a patient with cushingoid features firstly suggests surreptitious assumption of corticosteroids.

  • A multidisciplinary approach can be extremely useful in patients with suspected factitious Cushing’s syndrome.

  • Sometimes, to prove surreptitious assumption of corticosteroids needs environmental investigation.

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Annabelle M Warren Department of Endocrinology and Diabetes, Alfred Health, Melbourne, Victoria, Australia

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Duncan J Topliss Department of Endocrinology and Diabetes, Alfred Health, Melbourne, Victoria, Australia
Monash University, Central Clinical School, Melbourne, Victoria, Australia

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Peter Shane Hamblin Department of Endocrinology and Diabetes, Alfred Health, Melbourne, Victoria, Australia
Monash University, Central Clinical School, Melbourne, Victoria, Australia
Department of Endocrinology and Diabetes, Western Health, Melbourne, Victoria, Australia
Department of Medicine, Western Clinical School, The University of Melbourne, Melbourne, Victoria, Australia

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Summary

Despite improvements in localisation techniques and surgical advances, some patients with insulinoma will not be cured by surgery or may not be suitable for surgery. Medical management with diazoxide is an option for such cases. This case report details 27 years of successful management of insulinoma using diazoxide. It has been effective and safe, with only minor adverse effects.

Learning points:

  • Long term diazoxide use can be a safe, effective option for insulinoma when it cannot be localised or removed surgically.

  • Common adverse effects include peripheral oedema, hyperuricaemia, and hirsutism.

  • 68Ga-NOTA-exendin-4 PET/CT scan should be considered for insulinoma localisation when other modalities have been unhelpful.

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Yang Timothy Du Department of Diabetes and Endocrinology, Flinders Medical Centre, Bedford Park, South Australia, Australia

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Angus Rutter School of Medicine, Flinders University, Bedford Park, South Australia, Australia

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Jui T Ho Department of Diabetes and Endocrinology, Flinders Medical Centre, Bedford Park, South Australia, Australia

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Summary

A 40-year-old man with achondroplasia presented with symptoms of hypogonadism, low libido and gynaecomastia. He was found to have hypergonadotropic hypogonadism, and karyotype and fluorescent in situ hybridisation analysis showed SRY-positive 46, XX disorder of sex development (DSD). He was tested to have the common activating mutation of the FGFR3 gene implicated in achondroplasia, indicating that he had the two rare conditions independently, with an extremely low incidence of 1 in 400 million. This, to the best of our knowledge, is the first report of an individual having these two rare conditions concurrently. This case highlights that individuals with achondroplasia should have normal sexual development, and in those presenting with incomplete sexual maturation or symptoms of hypogonadism should prompt further evaluation. We also propose a plausible link between achondroplasia and 46, XX DSD through the intricate interactions between the SRY, SOX9 and FGFR9 gene pathways.

Learning points:

  • The SOX9 and FGF9 genes, which are upregulated by the SRY gene, are important in both sex determination in the embryo, as well as endochondral bone growth.

  • Patients with achondroplasia should have normal sexual development and function in the absence of other confounding factors.

  • Patients with achondroplasia who present with symptoms and signs of abnormal sexual development and/or hypogonadism should be appropriately investigated for other causes.

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Kingsley Okolie National Health Co-op, Australian Capital Territory (ACT), Canberra, Australia

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Sumathy Perampalam Department of Endocrinology, Canberra Hospital, Canberra, ACT, Australia
Australian National University Medical School, Canberra, ACT, Australia

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Anthony Barker Forensic Mental Health, Justice Health and Alcohol and Drug Services, Canberra, ACT, Australia

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Christopher J Nolan Department of Endocrinology, Canberra Hospital, Canberra, ACT, Australia
Australian National University Medical School, Canberra, ACT, Australia

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Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders.

We present a 44-year-old man with KS who, despite having erectile dysfunction, paradoxically had increased libido. He used sildenafil to overcome his erectile dysfunction. Hypersexuality was manifested by very frequent masturbation, multiple sexual partners most of whom were casual, and a sexual offence conviction at the age of 17 years.

Discussion focuses on the frequent failure of clinicians to diagnose KS, the neurocognitive, behavioural and psychiatric aspects of KS, this unusual presentation of hypersexuality in a man with KS, and the challenges of medical management of hypogonadism in a man with a history of a sexual offence.

Learning points:

  • Klinefelter syndrome (KS) is common in men (about 1 in 600 males), but the diagnosis is very often missed.

  • In addition to classic features of hypogonadism, patients with KS can often have associated neurocognitive, behavioural and/or psychiatric disorders.

  • More awareness of the association between KS and difficulties related to verbal skills in boys could improve rates of early diagnosis and prevent longer-term psychosocial disability.

  • Hypersexuality in the context of hypogonadism raises the possibility of sex steroid independent mechanistic pathways for libido.

  • Testosterone replacement therapy in KS with hypersexuality should be undertaken with caution using a multidisciplinary team approach.

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Anna Kopczak Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany
Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Adrian-Minh Schumacher Institute for Stroke and Dementia Research

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Sandra Nischwitz Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Tania Kümpfel Institute of Clinical Neuroimmunology, Klinikum der Universität München, Ludwig-Maximilians Universität LMU, Munich, Germany

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Günter K Stalla Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Matthias K Auer Max Planck Institute of Psychiatry, Clinical Neuroendocrinology Group, Munich, Germany

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Summary

The autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison’s disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test. Despite initiation of hormone replacement therapy with hydrocortisone and fludrocortisone, nausea persisted and the patient developed cognitive deficits and a loss of interest which led to the diagnosis of depression. She was admitted to the psychiatric department for further diagnostic assessment. An EEG showed a focal epileptic pattern. Glutamic acid decarboxylase (GAD) antibodies, which had been negative eight years earlier, were now elevated in serum and in the cerebrospinal fluid. Oligoclonal bands were positive indicating an inflammatory process with intrathecal antibody production in the central nervous system (CNS). The periodic nausea was identified as dialeptic seizures, which clinically presented as gastrointestinal aura followed by episodes of reduced consciousness that occurred about 3–4 times per day. GAD antibody-associated limbic encephalitis (LE) was diagnosed. Besides antiepileptic therapy, an immunosuppressive treatment with corticosteroids was initiated followed by azathioprine. The presence of nausea and vomiting in endocrine patients with autoimmune disorders is indicative of adrenal insufficiency. However, our case report shows that episodic nausea may be a symptom of epileptic seizures due to GAD antibodies-associated LE in patients with APECED.

Learning points:

  • Episodic nausea cannot only be a sign of Addison’s disease, but can also be caused by epileptic seizures with gastrointestinal aura due to limbic encephalitis.

  • GAD antibodies are not only found in diabetes mellitus type 1, but they are also associated with autoimmune limbic encephalitis and can appear over time.

  • Limbic encephalitis can be another manifestation of autoimmune disease in patients with APECED/APS-1 that presents over the time course of the disease.

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Durgesh Prasad Chaudhary BP Koirala Institute of Health Sciences, Dharan, Nepal

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Tshristi Rijal BP Koirala Institute of Health Sciences, Dharan, Nepal

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Kunal Kishor Jha Critical Care Medicine, Geisinger Medical Center, Danville, Pennsylvania, USA

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Harpreet Saluja RCSI, Busaiteen, Bahrain

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Summary

Combined pituitary hormonal deficiency (CPHD) is a rare disease that results from mutations in genes coding for transcription factors that regulate the differentiation of pituitary cells. PROP1 gene mutations are one of the etiological diagnoses of congenital panhypopituitarism, however symptoms vary depending on phenotypic expression. We present a case of psychosis in a 36-year-old female with congenital panhypopituitarism who presented with paranoia, flat affect and ideas of reference without a delirious mental state, which resolved with hormone replacement and antipsychotics. Further evaluation revealed that she had a homozygous mutation of PROP1 gene. In summary, compliance with hormonal therapy for patients with hypopituitarism appears to be effective for the prevention and treatment of acute psychosis symptoms.

Learning points:

  • Patients with PROP1 gene mutation may present with psychosis with no impairment in orientation and memory.

  • There is currently inadequate literature on this topic, and further study on the possible mechanisms of psychosis as a result of endocrine disturbance is required.

  • Compliance with hormonal therapy for patients with hypopituitarism appears to be effective for prevention and treatment of acute psychosis symptoms.

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Ilse C A Bakker Department of Internal Medicine, Section of Endocrinology, University Medical Center Utrecht, Utrecht, The Netherlands

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Chris D Schubart Department of Psychiatry, Tergooi Hospital, Hilversum, The Netherlands

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Pierre M J Zelissen Department of Internal Medicine, Section of Endocrinology, University Medical Center Utrecht, Utrecht, The Netherlands

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Summary

In this report, we describe a female patient with both prolactinoma and psychotic disorder who was successfully treated with aripiprazole, a partial dopamine 2 receptor agonist. During the follow-up of more than 10 years, her psychotic symptoms improved considerably, prolactin levels normalised and the size of the prolactinoma decreased. This observation may be of clinical relevance in similar patients who often are difficult to treat with the regular dopaminergic drugs.

Learning points

  • Prolactinoma coinciding with psychosis can represent a therapeutic challenge.

  • In contrast to many other antipsychotic drugs, aripiprazole is associated with a decrease in prolactin levels.

  • Aripiprazole can be a valuable pharmaceutical tool to treat both prolactinoma and psychosis.

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