Patient Demographics > Age > Adolescent/young adult

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E Castellano
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M Pellegrino
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R Attanasio Endocrinology Service, Galeazzi Institute IRCCS, Milan, Italy

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V Guarnieri Genetics Unit, Casa Sollievo della Sofferenza, IRCCS, San Giovanni Rotondo, Italy

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A Maffè Genetics and Molecular Biology, Santa Croce and Carle, Cuneo, Italy

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G Borretta
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Summary

We report the association of primary hyperparathyroidism (PHPT) and Klinefelter's syndrome (KS) in a 22-year-old male complaining of worsening fatigue. PHPT was asymptomatic at the diagnosis, but the patient had worsening hypercalcemia and osteoporosis, and developed acute renal colic. He then underwent parathyroidectomy with resection of a single adenoma and normalization of calcium and parathyroid hormone levels. Clinical and therapeutic implications of this rare association are discussed.

Learning points

  • The coexistence of KS and PHPT is very uncommon.

  • Patients with mild PHPT often have nonspecific symptoms that may be confused and superimposed with those of hypogonadism.

  • KS patients, especially when young and already osteoporotic at diagnosis, should be screened for other causes of secondary osteoporosis, in particular PHPT.

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Jaya Sujatha Gopal-Kothandapani Department of Human Metabolism, University of Sheffield, Sheffield, UK

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Veejay Bagga Department of Neurosurgery, Royal Hallamshire Hospital, Sheffield, UK

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Stephen B Wharton Department of Histopathology, Royal Hallamshire Hospital, Sheffield, UK

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Daniel J Connolly Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield, UK
Department of Neuroradiology, Sheffield Children's Hospital, Sheffield, S10 2TH, UK

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Saurabh Sinha Department of Neurosurgery, Royal Hallamshire Hospital, Sheffield, UK
Department of Neurosurgery, Sheffield Children's Hospital, Sheffield, S10 2TH, UK

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Paul J Dimitri Department of Paediatric Endocrinology, Sheffield Children's Hospital, Sheffield, S10 2TH, UK

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Summary

Xanthogranulomatous hypophysitis (XGH) is a very rare form of pituitary hypophysitis that may present both clinically and radiologically as a neoplastic lesion. It may either be primary with an autoimmune aetiology and can occur in isolation or as a part of autoimmune systemic disease or secondary as a reactive degenerative response to an epithelial lesion (e.g. craniopharyngioma (CP), Rathke's cleft cyst, germinoma and pituitary adenomas) or as a part of a multiorgan systemic involvement such as tuberculosis, sarcoidosis or granulomatosis. It may also present with a variation of symptoms in children and adults. Our case series compares the paediatric and adult presentations of XGH and the differential diagnoses considered in one child and two adult patients, highlighting the wide spectrum of this condition. Endocrine investigations suggested panhypopituitarism in all three patients and imaging revealed a suprasellar mass compressing the optic chiasm suggestive of CP or Rathke's cleft cyst in one patient and non-functioning pituitary macroadenoma in two patients. Magnetic resonance imaging (MRI) demonstrated mixed signal intensities on T1- and T2-weighted sequences. Following endoscopic transsphenoidal surgery, histological analysis revealed necrotic material with a xanthogranulomatous reaction confirming XGH in two patients and a necrobiotic granulomatous chronic inflammatory infiltrate with neutrophils in one patient, which is not typical of current descriptions of this disorder. This case series describes the wide spectrum of XGH disease that is yet to be defined. Mixed signal intensities on T1- and T2-weighted MRI sequences may indicate XGH and diagnosis is confirmed by histology. Histological variation may indicate an underlying systemic process.

Learning points

  • XGH is a rare form of pituitary hypophysitis with a wide clinical and histological spectrum and can mimic a neoplastic lesion.

  • XGH primarily presents with growth arrest in children and pubertal arrest in adolescents. In adults, the presentation may vary.

  • A combination of hypopituitarism and mixed signal intensity lesion on MRI is suggestive of XGH and should be considered in the differential diagnosis of sellar lesions.

  • Radical surgery is the treatment of choice and carries an excellent prognosis with no recurrence.

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Carla Costa
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Cíntia Castro-Correia
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Alda Mira-Coelho Departments of Psychiatry

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Bessa Monteiro Paediatric Surgery, Hospital São João, Porto, Portugal

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Joaquim Monteiro Paediatric Surgery, Hospital São João, Porto, Portugal

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Ieuan Hughes Endocrinology and Diabetology Unit, Department of Paediatrics, Addenbrook's Hospital, University of Cambridge, Cambridge, UK

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Manuel Fontoura
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Summary

The development of male internal and external genitalia in an XY fetus requires a complex interplay of many critical genes, enzymes, and cofactors. The enzyme 17β-hydroxysteroid-dehydrogenase type 3 (17βHSD3) is present almost exclusively in the testicles and converts Delta 4-androstenodione (Δ4) to testosterone. A deficiency in this enzyme is rare and is a frequently misdiagnosed autosomal recessive cause of 46,XY, disorder of sex development. The case report is of a 15-year-old adolescent, who was raised according to female gender. At puberty, the adolescent had a severe virilization and primary amenorrhea. The physical examination showed a male phenotype with micropenis and blind vagina. The Tanner stage was A3B1P4, nonpalpable gonads. The karyotype revealed 46,XY. The endocrinology study revealed: testosterone=2.38 ng/ml, Δ4>10.00 ng/ml, and low testosterone/Δ4 ratio=0.23. Magnetic resonance imaging of the abdominal–pelvic showed the presence of testicles in inguinal canal, seminal vesicle, prostate, micropenis, and absence of uterus and vagina. The genetic study confirmed the mutation p.Glu215Asp on HSD17B3 gene in homozygosity. The dilemma of sex reassignment was seriously considered when the diagnosis was made. During all procedures the patient was accompanied by a child psychiatrist/psychologist. The teenager desired to continue being a female, so gonadectomy was performed. Estrogen therapy and surgical procedure to change external genitalia was carried out. In this case, there was a severe virilization at puberty. It is speculated to be due to a partial activity of 17βHSD3 in the testicles and/or extratesticular ability to convert Δ4 to testosterone by 17βHSD5. Prenatal exposure of the brain to androgens has increasingly been put forward as a critical factor in gender identity development, but in this case the social factor was more important for the gender assignment.

Learning points

  • In this case, we highlight the late diagnosis, probably because the patient belongs to a poor family without proper primary medical care.

  • We emphasize the psychological and social aspects in the sex assignment decision.

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Gabriela Alejandra Sosa Departments of Endocrinology, Metabolism and Nuclear Medicine

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Soledad Bell Departments of Endocrinology, Metabolism and Nuclear Medicine

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Silvia Beatriz Christiansen Pathology

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Marcelo Pietrani Radiology

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Mariela Glerean Departments of Endocrinology, Metabolism and Nuclear Medicine

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Monica Loto Departments of Endocrinology, Metabolism and Nuclear Medicine

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Soledad Lovazzano Departments of Endocrinology, Metabolism and Nuclear Medicine

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Antonio Carrizo Neurosurgery, Hospital Italiano, Perón 4190, 1202 Buenos Aires, Argentina

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Pablo Ajler Neurosurgery, Hospital Italiano, Perón 4190, 1202 Buenos Aires, Argentina

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Patricia Fainstein Day Departments of Endocrinology, Metabolism and Nuclear Medicine

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Summary

IgG4-related hypophysitis is a recently described entity belonging to the group of IgG4-related diseases. Many other organs can also be affected, and it is more common in older men. To date, 32 cases of IgG4-related hypophysitis have been reported in the literature, 11 of which included confirmatory tissue biopsy and the majority affecting multiple organs. The aim of this report is to present two cases of biopsy-proven IgG4-related hypophysitis occurring in two young female patients with no evidence of involvement of other organs at the time of diagnosis.

Learning points

  • IgG4-related hypophysitis belongs to the group of IgG4-related diseases, and is a fibro-inflammatory condition characterized by dense lymphoplasmacytic infiltrates rich in IgG4-positive plasma cells and storiform fibrosis.

  • It is more common in older men, but young women may also present this type of hypophysitis.

  • Although involvement of other organs is frequent, isolated pituitary disease is possible.

  • Frequent clinical manifestations include anterior hypopituitarism and/or diabetes insipidus.

  • The diagnosis may be confirmed with any of the following criteria: a pituitary biopsy with lymphoplasmacytic infiltrates, with more than ten IgG4-positive cells; a sellar mass and/or thickened pituitary stalk and a biopsy-proven involvement of another organ; a sellar mass and/or thickened pituitary stalk and IgG4 serum levels >140 mg/dl and sellar mass reduction and symptom improvement after corticosteroid treatment.

  • Glucocorticoids are recommended as first-line therapy.

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Chiara Baratelli Dipartimento di Oncologia, Oncologia Medica

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Maria Pia Brizzi Dipartimento di Oncologia, Oncologia Medica

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Marco Tampellini Dipartimento di Oncologia, Oncologia Medica

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Giorgio Vittorio Scagliotti Dipartimento di Oncologia, Oncologia Medica

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Adriano Priola SCDU Radiologia

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Massimo Terzolo Dipartimento di Scienze Cliniche e Biologiche, Medicina Interna, Università di Torino, Azienda Ospedaliero Universitaria San Luigi Gonzaga, Regione Gonzole 10, 10043 Orbassano, Italy

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Anna Pia Dipartimento di Scienze Cliniche e Biologiche, Medicina Interna, Università di Torino, Azienda Ospedaliero Universitaria San Luigi Gonzaga, Regione Gonzole 10, 10043 Orbassano, Italy

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Alfredo Berruti Dipartimento di Specialità Medico-Chirurgiche, Scienze Radiologiche e Sanità Pubblica Università di Brescia, Oncologia Medica, Azienda Ospedaliera Spedali Civili, Brescia, Italy

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Summary

Insulinoma is a rare form of insulin-secreting pancreatic islet cell neuroendocrine (NE) tumor. The medical treatment of the malignant NE disease of the pancreas deeply changed in the last years, thanks to the introduction of new target molecules, as everolimus. Even if the exact mechanism is not actually known, one of the side effects of everolimus, hyperglycemia, has been demonstrated to be useful to contrast the typical hypoglycemia of the insulinoma. We report the case of a patient with a metastatic malignant insulinoma treated with intermittent everolimus, obtaining an important improvement in the quality of life; this suggests the necessity of preclinical studies to analyze the cellular pathways involved in insulin-independent gluconeogenesis.

Learning points

  • Effect of somatostatin analogs is long-lasting in the control of functioning NE tumors.

  • Persistent everolimus control of hypoglycemia despite serum insulin levels and disease progression.

  • Open issue: are disease progression and the increase in serum markers the only valid criteria to reject a treatment?

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Marcos M Lima-Martínez Departamento de Ciencias Fisiológicas, Universidad de Oriente, Ciudad Bolívar, Venezuela
Unidad de Endocrinología, Diabetes, Metabolismo y Nutrición, Anexo A. Centro Médico Orinoco, Avenida Siegart, Ciudad Bolívar 8001, Venezuela

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Ernesto Guerra-Alcalá Departamento de Medicina, Hospital Vargas, Caracas, Venezuela

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Miguel Contreras Centro Médico El Valle, Porlamar, Venezuela

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José Nastasi Servicio de Genética Médica, Universidad de Oriente, Ciudad Bolívar, Venezuela

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Janelle A Noble Children's Hospital Oakland Research Institute, Oakland, California, USA

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Constantin Polychronakos Departments of Paediatrics and Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada

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Summary

Type 1 diabetes mellitus (T1DM) is a chronic disease characterized by the autoimmune destruction of pancreatic β-cells. This paper describes the case of a 19-year-old male patient who presented with glutamic acid decarboxylase (GAD) antibody positive and diabetic ketoacidosis, which mandated intensive insulin treatment. Once the ketoacidosis was controlled, an oral dose of 100 mg of sitagliptin was administered once a day. Ketoacidosis was managed by insulin and insulin daily requirement began to dwindle after one month, until its complete withdrawal at 8 weeks, when partial remission was reached. The patient has now remained on sitagliptin treatment alone for a year, without requiring insulin. The benefit observed with this medication is possibly associated with its immunological effects. Inhibition of dipeptidyl peptidase 4 in animal models deregulates the Th1 immune response, increases secretion of Th2 cytokines, activates CD4+CD25+FoxP3+ regulatory T-cells, and prevents IL17 production.

Learning points

  • The use of insulin-dose-adjusted HbA1c constitutes the best way to define partial remission in T1DM patients.

  • The use of sitagliptin in T1DM patients could help to decrease daily requirement of insulin by delaying β-cell loss and improving endogenous insulin production.

  • The determination of antibodies against insulin, islet cells, and GAD permits differentiation of T1DM patients from those with atypical or ketosis-prone diabetes.

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Roberto Salvatori Division of Endocrinology, Diabetes and Metabolism, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Adrian F Daly Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Alfredo Quinones-Hinojosa Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

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Albert Thiry Department of Pathology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Albert Beckers Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium

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Summary

Heterozygous germline inactivating mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene lead to pituitary adenomas that most frequently present in the setting of familial isolated pituitary adenoma syndrome, usually as somatotropinomas and prolactinomas. More recently, they have been found in a significant percentage of young patients presenting with pituitary macroadenoma without any apparent family history. We describe the case of a 19-year-old man who presented with a gigantic somatotropinoma. His family history was negative. His peripheral DNA showed a heterozygous AIP mutation (p.I13N), while tumor tissue only had the mutated allele, showing loss of heterozygosity (LOH) and suggesting that the mutation caused the disease.

Learning points

  • AIP mutations may be observed in sporadic somatotrope adenomas occurring in young patients.

  • LOH is a strong indicator that an AIP variant is disease causing.

  • Somatotrope adenomas in carriers of AIP mutations are generally larger and more difficult to cure.

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Siew Hui Foo
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Shahada A H Sobah Department of Haematology, Ampang Hospital, Selangor, Malaysia

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Summary

Hypopituitarism is a rare presentation of Burkitt's lymphoma (BL). The purpose of this report is to present a case of BL presenting with panhypopituitarism and to review other case reports of lymphoma presenting with pituitary dysfunction to highlight the distinguishing features of these cases from other benign aetiologies of pituitary dysfunction such as non-functioning pituitary adenomas. We reviewed a total of 11 cases of lymphoma presenting with pituitary dysfunction published from 1998 to 2013 including the present case. The demographics, clinical presentations, laboratory features, radiological findings, histological diagnosis, treatment administered and outcomes were described. Of the total number of patients, 45.5% of the cases had diffuse large B-cell lymphoma while 27.3% had BL. Anterior pituitary dysfunction was more common than posterior pituitary dysfunction at presentation. The other common associated presenting symptoms were painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms. Hypothalamic–pituitary abnormalities were often demonstrated radiologically to be associated with cavernous sinus and/or stalk involvement. All patients who completed immunochemotherapy responded haematologically. Pituitary dysfunction also improved in most cases although the recovery tended to be partial. In conclusion, a high index of suspicion of underlying malignancy, such as lymphoma, should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, rapidly evolving neurological features, radiological features atypical of a pituitary adenoma and constitutional symptoms. An early diagnosis is essential as prompt initiation of definitive therapy will induce disease remission and recovery of pituitary dysfunction.

Learning points

  • Hypopituitarism may be the presenting symptom of lymphoma in the absence of associated overt symptoms or signs of a haematological malignancy resulting in delay in diagnosis and institution of treatment.

  • Pituitary dysfunction due to tumour infiltration has a greater tendency to involve the posterior pituitary and infundibulum resulting in diabetes insipidus and hyperprolactinaemia compared with a non-functioning pituitary adenoma.

  • The common associated symptoms of hypopituitarism due to lymphoma infiltration of the hypothalamic–pituitary system include painful ophthalmoplegia, cranial nerve palsies and constitutional symptoms.

  • Radiological abnormalities of the hypothalamic–pituitary region are usually present and often associated with cavernous sinus or stalk involvement.

  • With early institution of definitive treatment, both haematological response and improvement of pituitary dysfunction are expected although the reversal of hypopituitarism tends to be partial and delayed.

  • A high index of suspicion of underlying malignancy such as lymphoma should be present in patients presenting with acute pituitary dysfunction associated with painful ophthalmoplegia, radiological features atypical of pituitary adenomas and constitutional symptoms to enable early diagnosis and prompt initiation of definitive therapy.

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Despoina Manousaki Department of Pediatrics, Endocrine Service, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montreal, Quebec, Canada

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Cheri Deal Department of Pediatrics, Endocrine Service, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montreal, Quebec, Canada

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Jean Jacques De Bruycker Department of Pediatrics, Immunology Service, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montreal, Quebec, Canada

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Philippe Ovetchkine Infectious Disease Division, Department of Pediatrics, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montreal, Quebec, Canada

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Claude Mercier Surgery Department, Neurosurgery Service, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montreal, Quebec, Canada

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Nathalie Alos Department of Pediatrics, Endocrine Service, Centre Hospitalier Universitaire Sainte Justine, Université de Montréal, Montreal, Quebec, Canada

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Summary

Cystic sellar lesions are a rare cause of hypopituitarism and extremely rare in the pediatric age group. The differential diagnosis is large and includes both primary pituitary abscesses and cystic components on pre-existing lesions, such as adenoma, craniopharyngioma, Rathke's cleft cyst, leukemia, granulomatous disease and lymphocytic hypophysitis. In the absence of a definitive diagnosis, treatment can be challenging. We report a case of a 15-year-old female, who presented with headaches, altered consciousness and diplopia after a molar extraction, for which she had received oral antibiotics. Broad-spectrum i.v. antibiotics were given for presumed meningitis. Blood cultures failed to identify pathogens. Cerebral magnetic resonance imaging showed a pituitary cystic lesion. Endocrine studies revealed abnormal pituitary function. In the absence of a therapeutic response, the patient underwent a transsphenoidal biopsy of the pituitary gland, which yielded a purulent liquid, but cultures were negative. Histopathology showed lymphocytic infiltrates but no neutrophils, compatible with an inflammation of autoimmune or infectious origin. High-dose glucocorticoid therapy was started and pursued, along with i.v. antibiotics, for 6 weeks, leading to clinical and radiological improvement but with persistence of endocrine deficits. In conclusion, this is a case of secondary panhypopituitarism due to a cystic pituitary lesion, with a differential diagnosis of lymphocytic hypophysitis vs abscess in a context of decapitated meningitis. Combination therapy with antibiotics and glucocorticoids is a legitimate approach in the face of diagnostic uncertainty, given the morbidity, and even mortality, associated with these lesions.

Learning points

  • It is not always easy to differentiate primary cystic sellar lesions (such as a primary infectious pituitary abscess) from cystic components on pre-existing lesions (such as adenoma, craniopharyngioma, Rathke's cleft cyst, leukemia or lymphocytic hypophysitis).

  • Because of the absence of specific symptoms and of immunohistochemical and serum markers, response to glucocorticoids can be the only way to differentiate lymphocytic hypophysitis from pituitary lesions of another origin. In addition, microbiological cultures are negative in 50% of cases of primary infectious sellar abscesses, thus the response to antibiotic treatment is often the key element to this diagnosis.

  • A short course of high-dose glucocorticoids combined with antibiotics is not harmful in cases where there is no diagnostic certainty as to the origin of a cystic sellar mass, given the morbidity and mortality associated with these lesions.

  • This approach may also diminish inflammation of either infectious or autoimmune origin while ensuring that the most likely pathogens are being targeted.

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N Jassam Harrogate District Hospital, Harrogate HG2 7SX, UK

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N Amin Leeds Children's Hospital NHS Trust, Leeds, UK

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P Holland Leeds Children's Hospital NHS Trust, Leeds, UK

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R K Semple Wellcome Trust, Cambridge University Hospital, Cambridge, UK

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D J Halsall Clinical Biochemistry Department, Addenbrooke's Hospital, Cambridge, UK

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G Wark SAS Peptides Hormone Section, Royal Surrey County Hospital, Surrey, UK

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J H Barth Blood Sciences Department, Leeds Teaching Hospitals NHS Trust, Leeds, UK

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Summary

A lean 15-year-old girl was diagnosed with type 1 diabetes based on symptomatic hyperglycaemia and positive anti-islet cell antibodies. Glycaemia was initially stabilised on twice-daily mixed insulin. After 11 months from the time of diagnosis, she complained of hyperglycaemia and ketosis alternating with hypoglycaemia. This progressively worsened until prolonged hospital admission was required for treatment of refractory hypoglycaemia. A high titre of anti-insulin antibodies was detected associated with a very low recovery of immunoreactive (free) insulin from plasma after precipitation with polyethylene glycol, suggesting the presence of insulin in bound complexes. Insulin autoimmune syndrome was diagnosed and metabolic fluctuations were initially managed supportively. However, due to poor glucose control, immunosuppressive therapy was initiated first with steroids and plasmapheresis and later with anti-CD20 antibody therapy (Rituximab). This treatment was associated with a gradual disappearance of anti-insulin antibodies and her underlying type 1 diabetes has subsequently been successfully managed with an insulin pump.

Learning points

  • Anti-insulin antibodies may result in low levels of free insulin.

  • Polyclonal anti-insulin antibodies can interfere with the pharmacological action of administered insulin, resulting in hypoglycaemia and insulin resistance, due to varying affinities and capacities.

  • In this patient, rituximab administration was associated with a gradual disappearance of anti-insulin antibodies.

  • It is hypothesised that this patient had subcutaneous insulin resistance (SIR) caused by insulin capture at the tissue level, either by antibodies or by sequestration.

  • A prolonged tissue resistance protocol may be more appropriate in patients with immune-mediated SIR syndrome.

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