Expert Consensus on Bilateral Inferior Petrosal Sinus Sampling in the Diagnosis of Cushing′s Syndrome (2023) / 罕见病研究

@#Cushing′s syndrome(CS)is a clinical syndrome caused by a variety of causes, with main manifestations exhibited by central obesity, purple skin striae, hypertension, and diabetes. In patients with adrenocorticotropic hormone(ACTH)-dependent CS, the result of bilateral inferior petrosal sinus sampling(BIPSS)is the gold standard for determining the source of ACTH in the absence of routine imaging findings.However, the indications, contraindications, operating procedures, precautions and outcome judgments of BIPSS differ from one medical center to another, and there are currently no international and domestic clinical guidelines and expert consensus on BIPSS. In order to further improve the operation specifications of BIPSS in the diagnosis process of difficult CS, the Hypothalamic and Pituitary Disease Group of the China Alliance for Rare Diseases and the Innovation Center of Pituitary Diseases of Peking Union Medical College Hospital organized experts in endocrinology, interventional radiology, neurosurgery and laboratory in China to formulate this consensus. This consensus aims to provide standardized methodological guidance for the use of BIPSS in the differential diagnostic process of CS in clinical practice.

Síndrome de Cushing ACTH Dependiente, secreción ectópica: desarrollo de un caso / ACTH Dependent Cushing Syndrome due to ectopic secretion: report of a case

Se presenta el caso de un paciente varón de 32 años, derivado a nuestro servicio para evaluación de cuadro de 8 meses de evolución caracterizado por edema y rubicundez facial, obesidad central, edema en miembros inferiores e hipertensión arterial, compatible con síndrome de Cushing clínico. Aportaba estudios previos con cortisol séríco 29,8 y 33 µg/dl (determinaciones realizadas con un mes de diferencia), ACTH 72,8 pg/ml, cortisol salival 2,1 µg/dl, cortisol libre urinario (CLU) 993,4 µg/24 hs. Los estudios imagenológicos (ecografía doppler renal, TAC de abdomen y pelvis c/contraste oral y e.v., TAC de cráneo s/contraste y RMI de cráneo c/contraste e.v.) no aportaron datos relevantes. Se confirmó bioquímicamente el síndrome de Cushing dependiente de ACTH: cortisol sérico (8 hs) 34,8 µg/dl, ACTH (8 hs) 72 pg/ml, cortisol libre urinario 828 µg/24 hs. El test de Nugent no mostró freno. El test de Liddle (8 mg oral dexametasona 23 hs) produjo un descenso del cortisol plasmático de solo 21%. La función tiroidea, las gonadotrofinas y la prolactina séricas eran normales. La radiografía de tórax mostró mediastino ensanchado e imagen nodular parahiliar basal derecha; esto se confirmó por TAC. La formación nodular medía 20 x 13mm, era de bordes lisos y aspecto inespecífico. Se exploró quirúrgicamente esta lesión, con diagnóstico intraoperatorio de población linfoide de pequeño tamaño. Se realizó nodulectomía por toracotomía con la sospecha de lesión linfoproliferativa. El diagnóstico anatomopatológico definitivo: tumor neuroendócrino bien diferenciado ...

The case of a male patient aged 32, referred to our service for evaluation of 8-month history of facial redness and edema,central obesity, lower limb edema and arterial hypertension consistent with clinical Cushing syndrome is presented. He hadprevious studies showing serum cortisol 29.8 and 33 mg/dl (determinations performed one month apart), ACTH 72.8 pg/ml, salivary cortisol 2.1 µg/dl, urinary free cortisol (UFC) 993.4 µg/24 h. Imaging studies (renal ultrasound doppler, CTof the abdomen and pelvis with oral and iv contrast, skull CT without contrast and skull RMI with iv contrast) did notprovide relevant data. Serum cortisol (8 hours) 34.8 µg/dl, ACTH (8 h) 72 pg/ml, urinary free cortisol 828 µg/24 h: anACTH-dependent Cushing’s syndrome was biochemically confirmed. Nugent’s test was negative. Overnight Liddle’s test (8mg oral dexamethasone 23 h) resulted in a modest decrease (21%) in plasma cortisol. Thyroid function, serum gonadotropinsand prolactin were normal. The chest radiograph showed widened mediastinum and a right basal parahilar nodularimage; this was confirmed by CT. The nodule measured 20 x 13 mm, it had smooth edges and nonspecific appearance. Thislesion was explored surgically, with intraoperative diagnosis of small lymphoid population. Lumpectomy was performed bythoracotomy The final pathological diagnosis was well-differentiated neuroendocrine tumo...