MON-411 Psychological Disturbance And Weight Gain; Early Identification Of Cushing’S Disease In A Teenage Patient.

AbstractCushing’s disease (CD) is rare in paediatric practice but requires prompt investigation, diagnosis and therapy to prevent long-term complications. Key presenting features are a change in facial appearance, weight gain, growth failure, virilization, disturbed puberty and psychological disturbance. Close consultation with an adult endocrinology department is recommended regarding diagnosis and therapy. The incidence of CD, a form of ACTH-dependent Cushing’s syndrome (CS), is equal to approximately 5% of that seen in adults. The majority of ACTH-secreting adenomas are monoclonal and sporadic, although recent studies of pituitary tumours have shown links to several deubiquitination gene defects. Diagnosis requires confirmation of hypercortisolism followed by demonstration of ACTH-dependence. Identification of the corticotroph adenoma by pituitary MRI and/or bilateral inferior petrosal sampling for ACTH may contribute to localisation before pituitary surgery. Transsphenoidal surgery (TSS) with selective microadenomectomy is first-line therapy, followed by external pituitary irradiation if surgery is not curative. Medical therapy to suppress adrenal steroid synthesis is effective in the short-term and bilateral adrenalectomy should be considered in cases unfit for TSS or radiotherapy or when urgent remission is needed after unsuccessful surgery. TSS induces remission of hypercortisolism and improvement of symptoms in 70–100% of cases, particularly when performed by a surgeon with experience in children. Post-TSS complications include pituitary hormone deficiencies, sub-optimal catch-up growth, and persisting excess of BMI. Recurrence of hypercortisolism following remission is recognised but infrequent, being less common than in adult CD patients. With experienced specialist medical and surgical care, the overall prognosis is good. Early referral to an experienced endocrine centre is advised.

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SAT-271 Block and Replace Therapy Successfully Improved Symptoms in Recurrent Cyclic Cushing’s Disease

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.490 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Risa Kamigaki ◽

Hiraku Kameda ◽

Hiroshi Iesaka ◽

Rimi Izumihara ◽

Yuki Ohe ◽

...

Keyword(s):

Weight Gain ◽

Pituitary Adenoma ◽

Cushing’S Disease ◽

Brain Mri ◽

Urinary Free Cortisol ◽

Cushing's Disease ◽

Subjective Symptoms ◽

Free Cortisol ◽

Level Elevation ◽

Cortisol Levels

Abstract BACKGROUND: Cyclic Cushing’s disease is rare and treatments have not been established for post-surgical recurrent cases. Here, we report a patient with recurrent cyclic Cushing’s disease, whose subjective symptoms improved by administration of metyrapone and hydrocortisone. Clinical Case: A 45-year-old woman had exhibited face and peripheral edema, hyperphagia, weight gain, hair loss and limb numbness since September X-10. In May X-9, her ACTH and cortisol levels were high (87.8 pg/mL and 28.8 µg/dL, respectively), and she was referred to our department. A brain MRI revealed a pituitary adenoma of 7mm in diameter. Because blood ACTH and cortisol levels turned normal and typical Cushingoid features were absent at the admission to our department, cyclic Cushing’s disease was suspected. Later in September, because subjective symptoms recurred accompanied with blood cortisol level elevation, she was diagnosed as cyclic Cushing’s disease with the examinations including inferior petrosal sinus sampling. Transsphenoidal surgery was performed in November, and immunohistology confirmed ACTH-producing pituitary adenoma based on ACTH positivity. After the surgery, endocrine test results were normalized and subjective symptoms were ameliorated. In March X-3, the blood ACTH level increased again; however, no subjective symptoms were observed. From May X, she had experienced limb numbness, hyperphagia and weight gain again. MRI showed no apparent recurrence, but endocrine tests showed the activity of Cushing’s disease. Urinary free cortisol (UFC) increased to 300–400 µg/day in a 1-week cycle, indicating the recurrence of cyclic Cushing’s disease. Metyrapone treatment was initiated, and the patient was finally discharged after block and replace therapy with metyrapone 2,000 mg/day and hydrocortisone 15 mg/day. After metyrapone treatment, subjective symptoms improved and UFC was normalized. Conclusion: Block and replace therapy with metyrapone and hydrocortisone may be effective for recurrent cyclic Cushing’s disease, especially in cases with a very short cycle.

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SAT-262 A Case of Pseudotumor Cerebri After Removal and Recurrence of ACTH-Producing Tumor

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1490 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Karla Bermudez Saint Andre ◽

Steven Petak ◽

Laila Tabatabai

Keyword(s):

Weight Loss ◽

Cerebrospinal Fluid ◽

Weight Gain ◽

Cushing’S Syndrome ◽

Cushing’S Disease ◽

Pseudotumor Cerebri ◽

Cushing's Syndrome ◽

Cushing's Disease ◽

Pituitary Macroadenoma ◽

Second Surgery

Abstract Introduction: Pseudotumor cerebri also known as idiopathic intracranial hypertension (IIH) is a condition of elevated cerebrospinal fluid pressure which as a result causes headaches and vision problems. Several case reports and studies have reported a relation of IIH with Cushing’s disease (CD) in adults and children, particularly after surgical or medical therapy. We describe a very uncommon presentation of persistent intracranial hypertension (ICH) in a patient with recurrence of cushing’s disease after her initial surgical resection. Case presentation:38-year-old African-American female with a BMI of 45, type 2 diabetes, HTN and history of Cushing’s syndrome from an ACTH-producing pituitary macroadenoma. She initially presented with increasing weight gain and features of Cushing’s syndrome including hypertension, hyperglycemia, truncal obesity and moon facies. Imaging studies showed a 2 cm intrasellar mass with suprasellar extension without compression of the optic chiasm. Hormonal evaluation confirmed Cushing’s syndrome from an ACTH-producing pituitary macroadenoma. Patient underwent initial trans-sphenoidal hypophysectomy (TSR) and was tapered down to physiologic doses of glucocorticoids. Post-operatively she started complaining of significant headaches and transient vision loss. She followed up with neuro-ophthalmology and was diagnosed with papilledema that was not present in the pre-operative examination. An LP (lumbar puncture) was recommended to assess for ICH, however patient declined the procedure. A year after, a second surgery had to be performed for recurrent pituitary adenoma. Unfortunately, a repeat MRI pituitary shortly after her second surgery revealed recurrent pituitary macroadenoma of 2.2 cm. Patient continued with headaches and underwent an LP with an opening pressure of 28 cm H20 (ICH > 26 cm H2O). She underwent a third TSR with follow up MRI showing gross total resection of the previously seen pituitary mass. For her ICH she was started on acetazolamide but was not able to tolerate due to paresthesias and metallic taste. Her symptoms have improved after her last resection and last MRI brain shows no residual tumor. She is currently on furosemide and focusing on weight loss. Conclusion: Our patient’s presentation is an interesting and unusual case because we believe she had both pseudotumor cerebri (IIH) and real tumor cerebri from the complications of her ACTH-secreting macroadenoma. The cause of IIH after treatment of cushing’s disease is believed to be mostly due to steroid withdrawal after surgical resection or medical treatment comprising hormonal control of cerebrospinal fluid production and absorption. In our patient we suppose that the persistent weight gain caused by the recurrence of her CD could also contribute to her IIH. The treatment in general is the same with physiologic doses of corticosteroids, diuretics and weight loss.

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Cushing’s Disease: Not Always Black and White

Journal of the Endocrine Society ◽

10.1210/jendso/bvab048.1184 ◽

2021 ◽

Vol 5 (Supplement_1) ◽

pp. A580-A581

Author(s):

Kajal Shah ◽

Alan Chang ◽

Natalie Jarahzadeh

Keyword(s):

Weight Gain ◽

Pituitary Adenoma ◽

Cushing’S Disease ◽

Pituitary Surgery ◽

Cushing's Disease ◽

Nuclear Staining ◽

Corticotroph Adenoma ◽

Post Surgery ◽

Free Cortisol ◽

Initial Symptoms

Abstract Cushing’s Disease is a well known entity but the difficulty of diagnosis is often underappreciated. Given the wide spectrum of clinical presentation and pitfalls with each diagnostic evaluation, diagnosis of Cushing’s Disease (CD) is often difficult in clinical practice, even with pathological analysis. A 37 year old female with a history of Cushing’s Disease presented for her third transphenoidal resection to our institution. She was diagnosed with a pituitary microadenoma 16 years ago based on MRI, as she had persistent headaches and vision abnormalities. The patient also reported unexplained weight gain, “buffalo hump”, and moon facies at the time. She was diagnosed with CD due to an abnormal 1 mg overnight dexamethasone suppression test (DST) with AM cortisol of 3.03 ug/dl (normal <1.8 microgram/dl). She was on an oral contraceptive pill (OCP) at the time. The patient underwent her first pituitary transsphenoidal resection and was symptom free for about 10 years, after which she had a recurrence of her initial symptoms. She had another abnormal DST while on an OCP and pituitary MRI revealed growth of the pituitary adenoma. Patient underwent a second pituitary surgery with benign postoperative course with a recurrence about 5 years later. The workup prior to her third surgery revealed an abnormal DST while on OC pills with the 8am cortisol being 3.36 ug/dl (<1.8ug/dl), urinary free cortisol 35.4 mcg/24 hour (4-50 mcg/24 hour). 8am ACTH done on a separate day was 48 pg/ml (6-50 pg/ml) with a cortisol of 14.5 ug/dl. Midnight salivary cortisol was not performed. Interval history was still positive for weight gain and headaches, hence she was referred for her third pituitary surgery. Post surgery, the patient was on a short taper of hydrocortisone and 8am cortisol was 32 ug/dl the next day. After a discussion with the pathologist, it was determined that the pathology was suggestive of a corticotroph adenoma with moderate ACTH staining and patchy nuclear staining for TPIT, although the pathologist stated that it was difficult to be certain due to the small tissue size. From the current literature, this patient had an incomplete and equivocal biochemical work up while on OCPs but still had tissue diagnosis supporting CD. Whether this was a recurrence of Cushing’s disease, silent corticotroph adenoma, or non-functioning pituitary adenoma is unclear. This case illustrates the multiple challenges in the diagnosis of Cushing’s disease that may be encountered. 1.Braun LT et al. Recurrence after pituitary surgery in adult Cushing’s disease: a systematic review on diagnosis and treatment. Endocrine. 2020;70(2):218-231.

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MON-305 Clinical Features in Patients with Hypercorticism

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.1780 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Gulzoda Shuhratovna Negmatova ◽

Rukhangiz Utkurovna Norshodieva ◽

Umida Akmalovna Mirsaidova

Keyword(s):

Weight Gain ◽

Cushing’S Disease ◽

Clinical Manifestations ◽

Cushing's Disease ◽

Laboratory Evaluation ◽

Working Age ◽

Long Time ◽

Relationship Of ◽

The Relationship ◽

Endocrinology Clinic

Abstract Cushing’s disease is a severe multimorbid pathology affecting mainly people of young working age. In most cases, the diagnosis of the disease is acute and the patient is observed for a long time by doctors of different specialties with complications of hypercorticism. Purpose: To identify the most frequent clinical manifestations of hypercorticism at the time of diagnosis of Cushing’s disease, to analyze the relationship of clinical manifestations of hypercorticism with the main clinical and laboratory indicators. Material and methods: 25 patients were examined, including 15 women and 10 men with Cushing’s disease, registered in Samarkand Endocrinology Clinic. Results: Majority of patients (68%) were in age 25-40, the average age was 37. The median duration of the disease was 35,5 months. Matronism, the most characteristic manifestation of hypercortisolism was observed in 36% (9 patients). This is most often associated with hypercorticism symptoms were striae and acne, which were found in 56% (14 patients), osteoporosis 40% (10). The most frequent complaints were weight gain, fatigue, headache, menstrual disturbances. A number of symptoms had a positive correlation with cortisol levels. Conclusion: Clinical manifestations of hypercorticolism are mainly nonspecific. Striae and acne were found in high frequency. Therefore these key features, namely a change in facial appearance, weight gain, elevation of BMI and the presence of genital virilisation should alert the clinician to the possibility of Cushing’s disease and initiate laboratory evaluation

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DIFFERENT SURGICAL OPTIONS IN CUSHING’S DISEASE

Journal of Surgical Sciences ◽

10.33695/jss.v3i1.46 ◽

2016 ◽

Vol 3 (1) ◽

pp. 39-43

Author(s):

Ana Valea ◽

Cristina Ghervan ◽

Mara Carsote ◽

Simona Elena Albu ◽

Carmen Emanuela Georgescu

Keyword(s):

Case Report ◽

Weight Gain ◽

Cushing’S Disease ◽

Prolonged Exposure ◽

Pituitary Tumors ◽

Pituitary Surgery ◽

Emotional Disturbances ◽

Cushing's Disease ◽

First Year ◽

Bilateral Adrenal Hyperplasia

Cushing’s disease represents a severe endocrine disorder caused by prolonged exposure topituitary tumor-related high cortisol levels. Pituitary surgery is not always successful and otherapproaches as radiotherapy, direct suppressors of adrenocortical and/or pituitary activity, bilateraladrenalectomy are necessary. Case report 1 - A 15-year-old female was admitted at the age of 14for secondary amenorrhea, weight gain and emotional disturbances. Pituitary MRI revealed 2microadenomas of 3 mm, respective 3.5 mm. The pathological report confirmed benign features.After 12 days of hospitalization, the patient was discharged with the recommendation oflevothyroxine. Within the first year after surgery, the thyroid insufficiency due to pituitary surgeryremitted. Case report 2 - A 66-year-old male presented at the age of 37 with headache, weight gain,high blood pressure and Cushing’s disease was confirmed. Pituitary radiotherapy was preferred topituitary surgery since no pituitary tumor was revealed at imagery. 3 years later, two times openbilateral adrenalectomy was performed due to persistent hypercortisolism. The histology examrevealed bilateral adrenal hyperplasia. After discharge, lifelong therapy for adrenal insufficiencywas required. 32 months later, the clinical picture was complicated with Nelson’s syndrome basedon skin hyper-pigmentation and high ACTH (Adrenocorticotropic Hormone) despite no obviouspituitary adenoma was revealed by imagery. Weekly cabergoline was introduced to correct theincreased ACTH. Transsphenoidal hypophysectomy represents the treatment of choice for ACTH-producing pituitary tumors. The cases when pituitary surgery is not optional or successful, a secondsurgical procedure as bilateral adrenalectomy might become necessary.

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SAT-LB49 Persistent vs Recurrent Cushing’s Disease Diagnosed Four Weeks Post-Partum

Journal of the Endocrine Society ◽

10.1210/jendso/bvaa046.2128 ◽

2020 ◽

Vol 4 (Supplement_1) ◽

Author(s):

Emily V Nosova ◽

Joshua B Bederson ◽

Khadeen Christi Cheesman

Keyword(s):

Weight Gain ◽

Cushing’S Disease ◽

Diagnostic Tests ◽

Post Partum ◽

Cushing's Disease ◽

Focal Lesion ◽

Management Options ◽

Lower Extremity Weakness ◽

Urine Cortisol ◽

Post Partum Period

Abstract Background: Cushing’s disease (CD) recurrence in pregnancy has previously been described and is thought to be associated with predictable estradiol fluctuations during gestation. CD recurrence in the immediate post-partum period has been reported once, but never in a patient with documented dormant disease during pregnancy.Clinical Case: A 30 year old woman with recently diagnosed pre-diabetes presented with weight gain, dorsal hump, depression, oligomenorrhea, and lower extremity weakness. Diagnostic tests were consistent with CD. Results included: three elevated midnight salivary cortisols: 0.33, 1.38 and 1.10 ug/dL (<0.010 - 0.090); 1-mg dexamethasone suppression test (DST) with cortisol 14 ug/dL (<1.8); elevated 24-hr urine cortisol 825 ug/24 hr (6-42); and ACTH 35 pg/mL (7.2-63.3). MRI of the pituitary gland revealed a left 4mm focal lesion. After transsphenoidal resection (TSA), day 1, 2, and 3 morning cortisol values were 18, 5, and 2 ug/dL, respectively. Pathology did not show a definitive pituitary neoplasm. She was rapidly titrated off hydrocortisone (HC) by six weeks post-resection. Her symptoms steadily improved. She resumed normal menses and conceived unexpectedly around 3 months post-TSA. She complained of severe fatigue in her late 2nd trimester. Given low 24-hr urine cortisol of 15 ug/24 hr at 36 weeks gestation, she was started on HC. She was induced at 40 weeks gestation for oligohydramnios and subsequently delivered a healthy baby boy. HC was discontinued immediately after delivery. Around four weeks post-partum she developed symptoms concerning for CD. Diagnostic tests showed elevated midnight salivary cortisol of 0.206 and 0.723 ug/dL and 24-hour urine cortisol of 400 ug/24 hr. MRI pituitary illustrated a 3mm adenoma in the left posterior gland which was thought to represent growth of residual tumor not clearly seen on post-op MRI. During repeat TSA, a discrete lesion was found and resected. Pathology confirmed corticotroph adenoma with MIB-1 < 3%. Post-operative day 1, 2, and 3 cortisol levels were 26, 10 and 2.8 ug/dL, respectively. She was tapered off HC within one month. Her symptoms improved only slightly and she continued to report weight gain, muscle weakness, and fatigue. Three months after repeat TSA, biochemical data showed 1 out of 2 midnight salivary cortisols elevated at 0.124 ug/dL and elevated urine cortisol of 76 ug/24 hr. MRI pituitary demonstrated a 3 x 5 mm left enhancement, concerning for residual or enlarged persistent tumor. Conclusion: We describe the first report of recurrent CD that was quiescent during pregnancy, and subsequently diagnosed in the immediate post-partum period. Treatment options for persistent or recurrent CD include aggressive surgical resection, radiation and/or medical therapy. In the context of additional family planning for this otherwise healthy, reproductive-age woman, ideal management options remain uncertain.

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