Progress in Diagnosis and Treatment of Autoimmune Hypophysitis / 罕见病研究

Autoimmune hypophysitis is a rare disorder characterized by autoimmune-mediated inflammation of the pituitary, among which lymphocytic hypophysitis is the most common type that occurs mainly in young women of reproductive ages. Its common clinical manifestation includes headache, visual dysfunction, hypopituitarism and etc. Typical magnetic resonance imaging shows diffuse homogenous enlargement of the pituitary gland with gadolinium enhancement and stalk thickening. Pituitary biopsy with histopathological examination is the gold standard for the diagnosis of autoimmune hypophysitis, but it should be performed with extra care in that transsphenoidal surgery is invasive and may cause pituitary insufficiency. Closely relating to clinical manifestation of the patients and the radiological features is advised for diagnosis. Good response to glucocorticoid therapy also help confirm the diagnosis. Full course of pharmacological glucocorticoid treatment can effectively control the clinical symptoms, reduce the mass effects, and promote the resumption of pituitary functions. Surgery is usually necessary for xanthomatous and granulomatous hypophysitis. Pathophysiological mechanism, diagnostic biomarkers, and need studying further.

Síndrome poliuria - polidipsia de causa autoinmune en el posparto de una mujer de 27 años

La hipofisitis autoinmune es un cuadro caracterizado por la infiltración linfocítica de la hipófisis que produce deficiencia de una o más hormonas, tanto de la adenohipófisis como de la neurohipófisis. Para el diagnóstico, es necesario un alto índice de sospecha, más aún considerando la relación temporal con el embarazoo el parto. Las características clínicas e imagenológicas sugieren el diagnóstico. A pesar que el diagnóstico definitivo es por biopsia, esta no se suele realizar por los potenciales efectos adversos del procedimiento. Presentamos un caso que describe la forma de manifestación de la enfermedad y las características imagenológicas típicas en la resonancia magnética nuclear.

Autoimmune hypophysitis is a condition characterized by lymphocytic infiltration of the pituitary resulting in deficiency of one or more hormones of both the adenohypophysis and the neurohypophysis. For diagnosis, a high index of suspicion is necessary, even more so considering the temporal relationship with pregnancy or childbirth. Clinical and imaging features are suggestive of the diagnosis. Although the definitive diagnosis is by biopsy, this is not usually performed because of the potential adverse effects of the procedure. We present a case describing the form of manifestation of the disease and the typical imaging features on magnetic resonance imaging.

Hipofisitis linfocitaria primaria. Caso clínico / Primary lymphocytic hypophysitis. Report of one case

Primary lymphocytic hypophysitis is an autoimmune disease characterized by lymphocytic infiltration of the pituitary gland, with a higher incidence during late pregnancy and the postpartum period. It causes glandular destruction, mass effect and symptoms such headache, visual field defects, ophthalmoplegia and symptoms of hypopituitarism. We report a 38-year-old postpartum woman who, after giving birth presented decreased left visual acuity associated with a non ictal headache. Magnetic resonance imaging demonstrated a sellar mass associated with decreased free thyroxine and cortisol levels. Suspecting a primary lymphocytic hypophysitis, she was treated with prednisone 60 mg/day and hormonal replacement therapy. One month later, size of the pituitary gland decreased, and the visual field defect improved. Steroidal treatment was maintained for 36 months and progressively tapered. After two years of follow-up, the imaging studies show a normal sized pituitary gland.

Hipofisitis autoinmune. A propósito de un caso / Autoinmune hipophysitis. About a case

RESUMEN Se presentó un paciente negro, masculino, de 15 años de edad, con obesidad desde los 5 años, acantosis nigricans severa en cuello axilas, manos, muslos, estrías anacaradas en brazos y abdomen. Ligera ptosis palpebral bilateral, dificultad visual ligera. Poliuria y polidipsia. Desproporción de la brazada en relación con la talla. Hipogenitalismo, para el diagnóstico de esta afección se aplicó el método clínico, las técnicas de imágenes evidenciaron una gran masa selar que comprometía el hipotálamo y la hipófisis. Se realizaron los estudios hormonales demostrándose un hipopituitarismo total, el diagnóstico definitivo se realizó mediante la biopsia estereotaxica donde se diagnostica hipofisitis linfocitaria.

ABSTRACT A black male patient, 15 years of age, with obesity from the age of 5 year, severe acanthosis nigricans in neck, armpits, hands, thigs, stretch marks in arms and abdomen. Slight bilateral palpebral ptosis, slight visual difficulty. Polyuria and polydipsia. Disproportion of the stroke in relation to the size. Hypogenitalism, for the diagnosis of this condition. The clinical method was applied, the imaging techniques showed a large sellar mass that compromised the hypothalamus and pituitary gland. The hormonal studies were performed demostrating a total hypopituitarism, the definitive diagnosis was carried out by stereotactic biopsy where lymphocyte hypophysitis was diagnosed.

Hipofisitis linfoplasmocitaria y fibrosis retroperitoneal asociadas a un síndrome poliglandular autoinmune: enfermedades relacionadas con IgG4. Caso clínico / Hypophysitis and retroperitoneal fibrosis associated with autoimmune polyglandular syndrome and IgG4-related disease: report of one case

We report a 23 year old woman presenting with a nephrotic syndrome due to minimal change disease, central diabetes insipidus, primary hypothyroidism, vitiligo and universal alopecia. Eleven years later, she presented secondary amenorrhea due to hypogonadotropic hypogonadism, with mild hyperprolactinemia and central adrenal insufficiency. A magnetic resonance imaging of the sella turcica showed a pituitary mass with suprasellar extension that was resected using a transsphenoidal approach. Pathology confirmed the presence of a lymphoplasmacytic hypophysitis. She needed a second surgical resection due to mass growth and neuro-ophthalmologic impairment. One year later, systemic lupus erythematosus, arterial hypertension and type 2 diabetes mellitus were diagnosed. Two years later, due to back pain, constipation and renal failure, retroperitoneal fibrosis was found, satisfactorily treated with glucocorticoids and colchicine. Hence, this clinical vignette shows the coexistence of autoimmune polyglandular syndrome with retroperitoneal fibrosis and lymphoplasmacytic hypophysitis. Tissue analysis showed the presence of IgG4 producing plasma cells in the pituitary and retroperitoneum, which constitute a basis for the diagnosis of IgG4 related disease.

Autoimmune hypophysitis / 中华内分泌代谢杂志

Autoimmune hypophysitis is an inflammation of the pituitary gland resulting from autoimmune response, which can be classified as primary hypophysitis and secondary hypophysitis according to the etiology.The clinical presentation includes hypopituitarism and a pituitary mass.The diagnosis is based on clinical findings and radiology, while the pathology serves as the golden standard.The treatment is aimed at reducing the size of the pituitary mass, replacing the defective hormones and decreasing hyperprolactinemia.This review is about the epidemiology, pathogenesis, diagnosis, and treatment of lymphocytic hypophysitis, hypophysitis secondary to cytotoxic T-4 blockade, and IgG4-related hypophysitis.

Autoimmune hypophysitis: an underdiagnosed disease / 中华内分泌代谢杂志

Despite autoimmune hypophysitis remains relatively rare, it still poses a significant problem.Currently, about a half of the hypophysitis patients are misdiagnosed as pituitary adenoma and undergo unnecessary surgery. It is increasingly being recognized the identification of the real pituitary autoantigens and development of serologic tests in the differential diagnosis of pituitary masses before surgery. It is necessary to establish disease registration for patients with autoimmnune hypophysitis and get enough well-characterized cases for both basic and clinical studies fostering innovation in the field.