Disorders of sexual development are congenital in nature. Complete androgen insensitivity syndrome (CAIS) is a rare disorder with an incidence of nearly 1 in 20,000 male births. The majority of patients present with complaints of primary amenorrhoea and are phenotypically female but genotypically male. We report a case of a 40-year-old female presenting with backache and skin ulcers who was found to have exogenous Cushing’s syndrome with long glucocorticoid administration and suspected CAIS. The ulcers were secondary to intramuscular pentazocine injections.
Pentazocine ; Osteoporosis ; Pituitary ACTH Hypersecretion

BACKGROUND: Adult-Onset Still's Disease is a rare inflammatory disorder with an estimated incidence of 1 in 1,000,000 that presents with a rash, fever, and arthritis. Furthermore, there have only been three reported cases in the Philippines. Its presentation is similar to other more commonly encountered inflammatory disorders; however, it is the negative immunologic and serologic workup that typically distinguishes this rare specific inflammatory disorder along with the fulfillment of diagnostic criteria set by Yamaguchi and Cush. CASE: This is a case of an 18-year-old female who presented with recurrent fever, rash, and polyarthritis. The patient underwent extensive workup, but immunologic studies were negative. A consideration of Adult-Onset Stills Disease was made and along with the fulfillment of the classification criteria set by Yamaguchi and Cush, the diagnosis was clinched and the patient was started on glucocorticoid therapy where improvement of the patient's condition was noted with the resolution of the fever, rash and minimal complaints of joint pain. CONCLUSION: Adult-Onset Still’s Disease is an uncommon inflammatory disorder that confers high morbidity and disability. It commonly presents with shared clinical features among other inflammatory disorders; thus, recognition of the existence of this disease entity could pose a diagnostic dilemma. A high clinical suspicion along with negative studies and fulfillment of the diagnostic criteria avoids unnecessary workup and inappropriate management.
Autoimmune Diseases ; Joint Diseases ; Pituitary ACTH Hypersecretion

Management of pituitary tumors is multidisciplinary, with medical therapy playing an increasingly important role. With the exception of prolactin-secreting tumors, surgery is still considered the first-line treatment for the majority of pituitary adenomas. However, medical/pharmacological therapy plays an important role in controlling hormone-producing pituitary adenomas, especially for patients with acromegaly and Cushing disease (CD). In the case of non-functioning pituitary adenomas (NFAs), pharmacological therapy plays a minor role, the main objective of which is to reduce tumor growth, but this role requires further studies. For pituitary carcinomas and atypical adenomas, medical therapy, including chemotherapy, acts as an adjuvant to surgery and radiation therapy, which is often required to control these aggressive tumors. In the last decade, knowledge about the pathophysiological mechanisms of various pituitary adenomas has increased, thus novel medical therapies that target specific pathways implicated in tumor synthesis and hormonal over secretion are now available. Advancement in patient selection and determination of prognostic factors has also helped to individualize therapy for patients with pituitary tumors. Improvements in biochemical and “tumor mass” disease control can positively affect patient quality of life, comorbidities and overall survival. In this review, the medical armamentarium for treating CD, acromegaly, prolactinomas, NFA, and carcinomas/aggressive atypical adenomas will be presented. Pharmacological therapies, including doses, mode of administration, efficacy, adverse effects, and use in special circumstances are provided. Medical therapies currently under clinical investigation are also briefly discussed.
Acromegaly ; Adenoma ; Comorbidity ; Drug Therapy ; Humans ; Patient Selection ; Pituitary ACTH Hypersecretion ; Pituitary Neoplasms* ; Prolactinoma ; Quality of Life

OBJECTIVETo explore factors influencing the recurrence of patients with Cushing's disease after transsphenoidal surgery.

METHODSWe retrospectively analyzed the clinical data of 182 patients treated by transsphenoidal surgery with Cushing's disease in our department in PUMC Hospital from 1992 to 2002.

RESULTSThe recurrence rates were significantly different when patients had different radiological findings (P = 0.001), operative methods (P = 0.001), histological findings (P = 0.04), and postoperative cortisol levels (P = 0.02); however, such difference was not found in term of tumor size (P = 0.43).

CONCLUSIONRadiological findings, operative methods, histological findings, and postoperative cortisol estimates may be the factors influencing the recurrence of patients treated by transsphenoidal surgery.

Adenoma ; complications ; surgery ; Female ; Humans ; Hypophysectomy ; methods ; Male ; Pituitary ACTH Hypersecretion ; etiology ; surgery ; Pituitary Neoplasms ; complications ; surgery ; Recurrence ; Retrospective Studies

Objective To investigate the correlation between different postoperative serum cortisol cut-off values measured in different periods and the long-term outcomes in patients with Cushing's disease (CD). Methods The clinical data of 102 CD patients undergoing transsphenoidal surgery (TSS) in Peking Union Medical College Hospital from May 1985 to July 2008 were analyzed retrospectively. The differences of long-term outcomes were compared between patients with cortisol levels below 2 μg/dl (2 μg/dl group) and levels between 2 and 5 μg/dl (5 μg/dl group) in the 1postoperative day and 3 and 6 months after surgery. Results The mean follow-up duration was (10.7±1.7) years (range:5-29.1 years). Among these 102 patients,the disease was cured in 74 patients (72.5%) and recurred in 28 patients (27.5%). On the 1postoperative day,there were 63 patients in the 2 μg/dl group,in which 48 patients (76.2%) achieved long-term cure;there were 39 patients in the 5 μg/dl group,in which 26 (66.7%) achieved long-term cure. The difference was not statistically significant (χ=1.097,P=0.295). Three months after TSS,the long-term cure rate was 84.2% (48/57) in the 2 μg/dl group,which was significantly higher than that (65.0%,26/40) in the 5 μg/dl group (χ=4.795,P=0.029). Six months after TSS,the long-term cure rate was 88.7% (47/53) in the 2 μg/dl group,which was significantly higher than that(69.2%,27/39) in the 5 μg/dl group(χ=5.400,P=0.020). Conclusion The serum cortisol level of below 2 μg/dl is more useful than 2-5 μg/dl 3 months and 6 months after surgery in predicting the prognosis of CD patients.
Follow-Up Studies ; Humans ; Hydrocortisone ; blood ; Pituitary ACTH Hypersecretion ; blood ; surgery ; Postoperative Period ; Prognosis ; Recurrence ; Retrospective Studies

Adrenal myelolipoma (AML) is a rare, usually benign, and nonfunctioning tumor. About 7-15% of adrenal incidentalomas are AMLs, composed of normal hematopoietic elements and mature adipose tissue. AML is usually unilateral and < 4 cm. It is often discovered incidentally on abdominal computed tomography or magnetic resonance imaging. It is related to a chronic increase in adrenocorticotropic hormone, such as that observed in patients with congenital adrenal hyperplasia, Cushing disease, Conn's syndrome, and pheochromocytoma. Here, we report a 28-year-old man diagnosed with non-salt-losing congenital adrenal hyperplasia with huge bilateral AMLs and a literature review.
Adipose Tissue ; Adrenal Hyperplasia, Congenital* ; Adrenocorticotropic Hormone ; Adult ; Humans ; Hyperaldosteronism ; Magnetic Resonance Imaging ; Myelolipoma* ; Pheochromocytoma ; Pituitary ACTH Hypersecretion

Cushing's disease (CD) is a rare disorder characterized by the overproduction of adrenocorticotropic hormone due to a pituitary adenoma that ultimately stimulates excessive cortisol secretion from the adrenal glands. Prior to the detection of pituitary adenomas, various clinical signs of CD such as central obesity, moon face, hirsutism, and facial plethora are usually already present. Uncontrolled hypercortisolism is associated with metabolic, cardiovascular, and psychological disorders that result in increased mortality. Hence, the early detection and treatment of CD are not only important but mandatory. Because its clinical manifestations vary from patient to patient and are common in other obesity-related conditions, the precise diagnosis of CD can be problematic. Thus, the present set of guidelines was compiled by Korean experts in this field to assist clinicians with the screening, diagnoses, and treatment of patients with CD using currently available tests and treatment modalities.
Adrenal Glands ; Adrenocorticotropic Hormone ; Corticotropin-Releasing Hormone ; Cushing Syndrome ; Diagnosis* ; Hirsutism ; Humans ; Hydrocortisone ; Korea ; Mass Screening ; Mortality ; Obesity, Abdominal ; Petrosal Sinus Sampling ; Pituitary ACTH Hypersecretion ; Pituitary Neoplasms

Cushing disease in children and adolescents, especially with multiple pituitary adenomas (MPAs), is very rare. We report 17-year-old boy with MPAs. He presented with a vertebral compression fracture, weight gain, short stature, headache, and hypertension. On magnetic resonance imaging (MRI), only a left pituitary microadenoma was found. After surgery, transient clinical improvement was observed but headache and hypertension were observed again after 3 months later. Follow-up MRI showed a newly developed right pituitary microadenoma 6 months after the surgery. The need for careful clinical and radiographic follow-up should be emphasized in the search for potential MPAs in patients with persistent Cushing disease.
Adolescent* ; Child ; Follow-Up Studies ; Fractures, Compression* ; Headache ; Humans ; Hypertension ; Magnetic Resonance Imaging ; Male ; Pituitary ACTH Hypersecretion* ; Pituitary Neoplasms* ; Weight Gain

Cushing's disease (CD) is a relatively rare disease,characterized by pathological hypercortisolism secondary to excessive adrenocorticotrophic hormone that is secreted by pituitary adrenocorticotrophic hormone adenoma or hyperplasia. In addition to the typical clinical symptoms such as moon face,buffalo hump,and central obesity,the CD patients may also experience mental disorders and cognitive dysfunction. This review mainly focuses on the cognitive state of CD patients,the mechanisms of cognitive impairment caused by high cortisol levels,and the imaging findings (especially magnetic resonance imaging) for the evaluation of cognitive functions.
Adenoma ; complications ; Cognition ; Cognitive Dysfunction ; complications ; diagnosis ; Cushing Syndrome ; complications ; Humans ; Hyperplasia ; Magnetic Resonance Imaging ; Pituitary ACTH Hypersecretion ; Pituitary Neoplasms ; complications

A 14-year-old girl was referred for evaluation of the etiology of Cushing syndrome. During the previous 2 years, she had experienced weight gain, secondary amenorrhea, growth retardation, and back pain. Random serum cortisol level, 24-hour urinary free cortisol excretion, and overnight and low-dose dexamethasone suppression tests suggested Cushing syndrome. Midnight adrenocorticotropic hormone (ACTH) level and high-dose dexamethasone suppression test confirmed Cushing disease. Pituitary magnetic resonance imaging was suspicious for microadenoma. To eliminate ectopic ACTH syndrome, and lateralize the pituitary tumor, inferior petrosal sinus sampling (IPSS) was performed by desmopressin use to stimulate ACTH. Finally, the patient was diagnosed with Cushing disease due to ACTH-secreting pituitary microadenoma, lateralized to the left side; subsequently underwent transsphenoidal surgery. Here we report a case of a 14-year-old girl diagnosed with Cushing disease with a pituitary tumor lateralized by IPSS using desmopressin, which is very rare in pediatric Cushing disease.
ACTH Syndrome, Ectopic ; Adolescent ; Adrenocorticotropic Hormone ; Amenorrhea ; Back Pain ; Cushing Syndrome ; Deamino Arginine Vasopressin* ; Dexamethasone ; Female ; Humans ; Hydrocortisone ; Magnetic Resonance Imaging ; Petrosal Sinus Sampling* ; Pituitary ACTH Hypersecretion* ; Pituitary Neoplasms* ; Weight Gain