scholarly journals SUN-174 Giant Bilateral Myelolipomas in a Patient with Congenital Adrenal Hyperplasia

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Teodor Duro ◽  
Bethany Palinka ◽  
Nephtali Gomez ◽  
Kevin Anthony Codorniz
Keyword(s):  
Adrenal Mass ◽  
Rare Case ◽  
Plasma Renin ◽  
Flank Pain ◽  
Total Testosterone ◽  
Hydroxylase Deficiency ◽  
History Of ◽  
The Right ◽  
21 Hydroxylase Deficiency

Abstract INTRODUCTION Adrenal myelolipomas are rare, benign adrenal tumors composed of adipose and hematopoietic tissue. The first mass was identified by Gierke in 1905 and named by Oberling in 1929. Myelolipomas often coexist with CAH and other hormonal disorders although this relationship is still unclear. We present a rare case of giant bilateral myelolipomas in a patient with CAH. CASE REPORT A 28-year-old female with a history of CAH due to 21-hydroxylase deficiency diagnosed at birth presented to our endocrinology clinic after being lost to follow up for 4 years and a history of poor follow up for several years before that. She reported being on varying doses of hydrocortisone throughout her life with the most recent being 10mg TID with poor adherence. Over the past 4 years, the patient noticed increased hair growth on her face, abdomen, inner thighs and back, abdominal striae, and weight gain of 80-100lbs. She also reported a history of bilateral flank pain for the last several years, requiring several ER visits where she was told she had adrenal nodules based on scans that were done. A few months prior to her first visit to our clinic she developed increasing flank pain, which prompted a visit to a local ER. A CT of the abdomen revealed bilateral adrenal septated complex cystic masses measuring 19x12x20 cm on the left and 12x11x11 cm on the right. Initial biochemical workup was consistent with poorly managed CAH: ACTH 45.2 pg/mL (n 7.2 - 63.3), total testosterone 401 ng/dl (n 8-48), androstenedione 2085 ng/dl (n 41-262), 17-OH progesterone 18880 ng/dl, (n 15-290), DHEA-sulfate 423.5 ug/dl, (n 84.8-378), and estradiol 72.0 pg/dl, (n 12.5-498). Plasma renin activity was 13.904 ng/mL/hr (n 0.167-5.380 ng/mL/hr). Based on laboratory results hydrocortisone was decreased to 10mg BID and dexamethasone was added. Due to severe recurrent pain the patient underwent bilateral adrenalectomy. On pathology the bilateral masses were found to be myelolipomas with the left diameter measuring 22.3 cm and the right measuring 16.5 cm. Post-operatively her lab values showed significant improvement compared to her initial workup: ACTH 4.1 pg/mL, total testosterone 6.7 ng/dl, androstenedione 73 ng/dl, 17-OH progesterone 29 ng/dl, DHEA sulfate 7.2 ug/dl, and estradiol 228.3 pg/dl. Plasma renin was also within normal range at 1.776 ng/mL/hr. On follow up, the patient had recovered well and reported improvement in her flank pain. CONCLUSION This is a rare case of giant bilateral adrenal myelolipomas. Despite these tumors being benign and often asymptomatic, they are clinically relevant due to their role in the differential diagnosis of an adrenal mass. The presence of megakaryocytes in a biopsy specimen of a fatty adrenal mass is pathognomonic for myelolipoma. Treatment is guided by the tumor size and patient presentation; masses >7 cm, hormonally active, or causing abdominal pain should be surgically removed as demonstrated in this case

scholarly journals Rare Case of Servelle Martorelle Syndrome

2014 ◽  
Vol 10 (4) ◽  
pp. 91-94
Author(s):  
A Bhatnagar ◽  
M Deshpande
Keyword(s):  
Soft Tissue ◽  
Upper Limb ◽  
Rare Case ◽  
Prompt Treatment ◽  
Congenital Vascular Malformation ◽  
History Of ◽  
The Right ◽  
Scapular Region

Servelle Martorelle Syndrome is a congenital vascular malformation associated with soft tissue hypertrophy and bony hypoplasia. This rarely involves whole of an extremity, with involvement of part of limbs reported in literature. We present a case of a twelve year boy who presented to the Department of Plastic Surgery SGPGIMS in April 2011 ,with history of circumferential soft tissue hypertrophy involving whole of left upper limb, scapular region and axilla since birth. The entire left upper limb length was lesser than the right upper limb. Hence this is a very rare case of Servelle Martorelle Syndrome having extensive limb involvement at a very young age. Highlighted is the role of conservative treatment and close follow-up to understand the natural history of the diseases, with prompt treatment of complications. DOI: http://dx.doi.org/10.3126/kumj.v10i4.11011 Kathmandu Univ Med J 2012;10(4):91-94

scholarly journals Giant adrenal myelolipoma associated with 21-hydroxylase deficiency: unusual association mimicking an androgen-secreting adrenocortical carcinoma

2010 ◽  
Vol 54 (4) ◽  
pp. 419-424 ◽  
Author(s):  
Lívia Mara Mermejo ◽  
Jorge Elias Junior ◽  
Fabiano Pinto Saggioro ◽  
Silvio Tucci Junior ◽  
Margaret de Castro ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Adrenal Gland ◽  
Adrenocortical Carcinoma ◽  
Adrenal Mass ◽  
Surgical Excision ◽  
Abdominal Ultrasound ◽  
Hydroxylase Deficiency ◽  
Adrenal Myelolipoma ◽  
The Right ◽  
21 Hydroxylase Deficiency

The objective of this study was to describe a case of giant myelolipoma associated with undiagnosed congenital adrenal hyperplasia (CAH) due to 21-hydroxylase (21OH) deficiency. Five seven year-old male patient referred with abdominal ultrasound revealing a left adrenal mass. Biochemical investigation revealed hyperandrogenism and imaging exams characterized a large heterogeneous left adrenal mass with interweaving free fat tissue, compatible with the diagnosis of myelolipoma, and a 1.5 cm nodule in the right adrenal gland. Biochemical correlation has brought concerns about differential diagnosis with adrenocortical carcinoma, and surgical excision of the left adrenal mass was indicated. Anatomopathologic findings revealed a myelolipoma and multinodular hyperplasic adrenocortex. Further investigation resulted in the diagnosis of CAH due to 21OH deficiency. Concluded that CAH has been shown to be associated with adrenocortical tumors. Although rare, myelolipoma associated with CAH should be included in the differential diagnosis of adrenal gland masses. Moreover, CAH should always be ruled out in incidentally detected adrenal masses to avoid unnecessary surgical procedures.

scholarly journals Cecal malakoplakia: A case report

2021 ◽  
Vol 17 (1) ◽  
pp. 44-47
Author(s):  
Jin Woon Jeong ◽  
Ji Hyun Noh ◽  
Jeong Hyun Kang ◽  
Ji Hyun Park ◽  
Joo Hyung Lee
Keyword(s):  
Cervical Cancer ◽  
Rare Case ◽  
Psoas Muscle ◽  
Histopathologic Examination ◽  
Operative Case ◽  
Close Observation ◽  
History Of ◽  
The Right ◽  
Made In

Malakoplakia is a rare chronic granulomatous disease found in the genitourinary tract, mainly. It is considered to be related to immunosuppression and/or infectious processes. We would like to present an operative case of cecal malakoplakia in a patient with a history of surgical resection and chemotherapy for cervical cancer. A 74-year-old female patient visited our hospital for 1-year follow-up after operation and chemo-radiotherapy for cervical cancer. An infiltrative mass of 6 cm, between the cecal base and the right psoas muscle, was observed on computed tomography. An ileocectomy was performed for diagnosis. Histopathologic examination revealed cecal malakoplakia. After surgery, based on previous reports, antibiotics therapy was added. Then the patient was discharged and treated in the outpatient clinic. To our knowledge, a rare case has been described of cecal malakoplakia during observation after surgery and chemo-radiotherapy for cervical cancer. Malakoplakia is known to be related to immunosuppressive condition. Therefore, our case suggests that close observation should be made in patients on immunosuppressive condition, such as chemotherapy.

scholarly journals A Case of TSH-Secreting Pituitary Adenoma With Unusual Positive Staining for SF1

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A911-A912
Author(s):  
Kathleen Robinson ◽  
Brian O’Neill
Keyword(s):  
Stem Cell ◽  
Pituitary Adenoma ◽  
Rare Case ◽  
Hypogonadotropic Hypogonadism ◽  
Stem Cell Population ◽  
Total Testosterone ◽  
Positive Staining ◽  
Suprasellar Region ◽  
History Of

Abstract Background: TSH-secreting pituitary adenomas are the rarest functional pituitary tumors. While they are often plurihormonal, SF1 positivity (indicating gonadotroph lineage) is unusual. Here we present the rare case of a patient with TSH-secreting pituitary adenoma with staining positive for TSH, GH, prolactin, SSTR2A, PIT-1, and SF1. Clinical Case: Patient is a 42 year-old male with a history of hypogonadotropic hypogonadism (lost to follow-up), who presented with a 5 day history of nausea and vomiting. Vitals were notable for tachycardia to 108 BPM, with BMI 14.8 kg/m2. On physical exam he had enlarged right hemi-thyroid and exophthalmos. Labs were notable for TSH 12.55 μIU/mL (0.27-4.20), Free T4 >7.77 ng/dL (0.80-1.80), Free T3 29.02 pg/mL (2.57-4.43), 8am cortisol 0.9 μg/dL (6.0-18.4), FSH 0.6 μIU/ml (1.5-12.4), LH 0.8 μIU/mL (1.7-8.6), PRL 8.5 ng/mL (4.0-15.2), total testosterone <5 ng/dL (249-836), and IGF-1 88.9 ng/mL (94.4-223.0). MRI showed large lobulated pituitary mass extending into the suprasellar region with mass effect and thyroid US showed enlarged almost completely cystic right hemi-thyroid. The patient was started on methimazole 30mg BID, prednisone 40mg daily, and cabergoline 0.5mg weekly (he declined octreotide). FT4 and FT3 remained significantly elevated despite escalation of cabergoline to 0.5mg 5 days weekly, so the patient was admitted two months after his initial presentation for plasmapheresis followed by thyroidectomy. His hospital course was complicated by post-op meningitis and DI, both successfully treated. Surgical pathology was notable for patchy expression of TSH with rare cells expressing GH and prolactin, SSTR2A positivity, strong nuclear positivity for PIT-1 with negative T-PIT staining, and unusual positivity for SF1. At follow-up he is clinically euthyroid and stable without use of LT4 or HC therapy. Repeat TSH, FT4, ACTH, cortisol, and testosterone are pending. He declines chemotherapy, radiation, and octreotide. Conclusion: This is a rare case of TSH-producing adenoma demonstrating SF1 positivity in addition to TSH, GH, PRL, and PIT-1 expression, in the absence of excess gonadotroph secretion. When such tumors secrete multiple hormones, this has been used as evidence to support the argument that such tumors arise from a stem cell population(1). However, the implications for our patient remain unclear. References: (1) Tordjman et al. Plurihormonal Pituitary Tumor of Pit-1 and SF-1 Lineages, with Synchronous Collision Corticotroph Tumor: a Possible Stem Cell Phenomenon. Endocr Pathol. 2019 Mar;30(1):74-80.

Adenoid cystic carcinoma of the labium oris with rare metastasis to the pleural cavity

2021 ◽  
Vol 14 (1) ◽  
pp. e237622
Author(s):  
Osama Mosalem ◽  
Anas Alsara ◽  
Fawzi Abu Rous ◽  
Borys Hrinczenko
Keyword(s):  
Side Effects ◽  
Adenoid Cystic Carcinoma ◽  
Pleural Cavity ◽  
Epigastric Pain ◽  
Asian Woman ◽  
Upper Lip ◽  
Adenoid Cystic ◽  
History Of ◽  
The Right

A 57-year-old Southeast Asian woman with a remote history of adenoid cystic carcinoma (ACC) of the right labium superius oris (upper lip) presented to the hospital with vague epigastric pain. On workup, she was found to have multiple pleural nodules. Histopathology confirmed the diagnosis of metastatic ACC. After 8 months of active surveillance, evidence of disease progression was found and the patient was started on pembrolizumab. Follow-up after starting pembrolizumab showed stable disease with no significant side effects.

scholarly journals Parenchymal mucinous cystadenoma of the kidney: a case report and literature review

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Mahmoudreza Kalantari ◽  
Shakiba Kalantari ◽  
Mahdi Mottaghi ◽  
Atena Aghaee ◽  
Salman Soltani ◽  
...  
Keyword(s):  
Renal Cyst ◽  
Left Kidney ◽  
Previous History ◽  
Mucinous Cystadenoma ◽  
Single Layer ◽  
Renal Cysts ◽  
Cystic Mass ◽  
Flank Pain ◽  
History Of

Abstract Background Mucinous cystadenoma (MC) of the kidney is exceedingly rare. We found 22 similar cases in the literature. These masses are underdiagnosed due to radiologic similarities with simple renal cysts. Case presentation A 66-year-old man with a previous history of hypertension and anxiety was referred to our tertiary clinic with left flank pain. Ultrasound revealed a 60 mm-sized, complex cystic mass with irregular septa in the lower pole of the left kidney (different from last year's sonographic findings of a simple benign cyst with delicate septa). CT scan showed the same results plus calcification. Due to suspected renal cell carcinoma, a radical nephrectomy was performed. Postoperative histopathologic examination revealed a cyst lined by a single layer of columnar mucin-producing cells with small foci of pseudo-stratification, consistent with the MC’s diagnosis. The first follow-up visit showed normal blood pressure without medication and no flank pain and anxiety after a month. Conclusion It is quite challenging to distinguish the primary MC of the kidney from a simple renal cyst based on clinical and imaging findings. The radiologic features of these entities overlap significantly. Thus, complex renal cyst and renal cysts with mural nodules should be followed closely to detect malignancy earlier.

scholarly journals Laparoscopic Resection of Renal Capsular Endometriosis in a Woman with Menstrual-Related Flank Pain: Case Report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Abbas Basiri ◽  
Iman Ghanaat ◽  
Hamidreza Akbari Gilani
Keyword(s):  
Flank Pain ◽  
Pathological Examination ◽  
Histologic Evaluation ◽  
Normal Renal Parenchyma ◽  
Perinephric Space ◽  
Superior Portion ◽  
The Right ◽  
First Time ◽  
Laparoscopic Removal

Abstract Background Although involvement of the urinary system is not uncommon, endometriosis in the kidneys is rare. To date, laparoscopic partial nephrectomy has been the preferred approach for managing renal endometriosis. Here, we report for the first time the results of laparoscopic removal of a renal capsular endometriosis in a malrotated kidney in an attempt to save the whole kidney parenchyma, in terms of feasibility and safety. Case presentation A 37-year-old female presented with periodic right flank pain associated with her menstrual cycle. On imaging, a malrotated right kidney and a hypodense irregular-shaped lesion measuring 30 * 20 * 15 mm were seen in the superior portion of the right perinephric space. Histologic evaluation of the ultrasound-guided biopsy was consistent with renal capsular endometriosis. The patient underwent laparoscopic surgery to remove the capsular mass while preserving the normal renal parenchyma. Pathological examination of the biopsy obtained during surgery was in favor of renal endometriosis. At 6-month follow-up, the patient’s pain had completely disappeared and no complications had occurred. In addition, imaging did not show any remarkable recurrence. Conclusion Renal endometriosis should be strongly considered as a differential diagnosis in female patients with a renal capsular mass and exacerbation of flank pain during menstruation. Based on our experience, with preoperative needle biopsy and clearing the pathology, laparoscopic removal of the mass in spite of renal anatomic abnormality is feasible and safe and thus could be considered as a possible treatment option.

scholarly journals Catamenial pneumothorax with bubbling up on the diaphragmatic defects: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Bo Dong ◽  
Chun-Li Wu ◽  
Yin-liang Sheng ◽  
Bin Wu ◽  
Guan-Chao Ye ◽  
...  
Keyword(s):  
Thoracoscopic Surgery ◽  
Lung Lesion ◽  
Parietal Pleura ◽  
Catamenial Pneumothorax ◽  
Endometrial Cells ◽  
Retrograde Menstruation ◽  
History Of ◽  
The Right ◽  
Thoracic Endometriosis

Abstract Background Catamenial pneumothorax is characterized by spontaneous recurring pneumothorax during menstruation, which is a common clinical manifestation of thoracic endometriosis syndrome. There are still controversies about its pathogenesis. Case presentation A 43-year-old woman with a history of endometriosis came to our hospital due to recurring pneumothorax during menstruation. Uniportal Video-assisted Thoracoscopic Surgery (VATS) exploration was performed on the eve of menstruating. We thoroughly explored the diaphragm, visceral and parietal pleura: The lung surface was scattered with yellowish-brown implants; no bullae were found; multiple diaphragmatic defects were found on the dome. And surprisingly, we caught a fascinating phenomenon: Bubbles were slipping into pleural cavity through diaphragmatic defects. We excised the diaphragmatic lesions and wedge resected the right upper lung lesion; cleared the deposits and flushed the thoracic cavity with pure iodophor. Diaphragmatic lesions confirmed the presence of endometriosis, and interestingly enough, microscopically, endometrial cells were shedding with impending menses. After a series of intraoperative operations and postoperative endocrine therapy, the disease did not recur after a period of follow-up. Conclusion We have witnessed the typical signs of catamenial pneumothorax at the accurate timing: Not only observed the process of gas migration macroscopically, but also obtained pathological evidence of diaphragmatic periodic perforation microscopically, which is especially precious and confirms the existing theory that retrograde menstruation leads to diaphragmatic endometriosis, and the diaphragmatic fenestration is obtained due to the periodic activities of ectopic endometrium.

Ab interno 180-degree trabeculectomy with a dual blade in a patient with refractory primary congenital glaucoma

2021 ◽  
pp. 112067212110104
Author(s):  
Mehmet Talay Koylu ◽  
Fatih Mehmet Mutlu ◽  
Alper Can Yilmaz
Keyword(s):  
Intraocular Pressure ◽  
Female Patient ◽  
Congenital Glaucoma ◽  
Safe Procedure ◽  
Primary Congenital Glaucoma ◽  
History Of ◽  
Kahook Dual Blade ◽  
The Right ◽  
Ab Interno

A 13-year-old female patient with refractory primary congenital glaucoma (PCG) in the right eye who had a history of multiple glaucoma operations underwent ab interno 180-degree trabeculectomy with the Kahook Dual Blade (KDB) targeting the nasal and inferior angles. On postoperative day 1, the intraocular pressure (IOP) of the right eye reduced from 43 to 15 mmHg while on medical therapy. The patient maintained this IOP level throughout the 6-month follow-up. Ab interno KDB trabeculectomy targeting both nasal and inferior angles may be an effective and safe procedure for the treatment of PCG even in eyes with a history of previously failed glaucoma procedures.

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

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