scholarly journals Bilateral sactosalphinx and congenital adrenal hyperplasia: case report on two rare conditions in two virgin girls

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Maria-Grazia Scarpa ◽  
Marianna Iaquinto ◽  
Daniela Codrich ◽  
Jürgen Schleef
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Recurrent Abdominal Pain ◽  
Fertility Rate ◽  
Low Fertility ◽  
Conservative Approach ◽  
Adrenal Hyperplasia ◽  
Case Presentation ◽  
Sex Development ◽  
First Case

Abstract Background Sactosalpinx means a collection of fluid (serum, blood or pus) in the fallopian tube. CAH (Congenital Adrenal Hyperplasia) is a typical 46XX DSD (Disorder of Sex Development) due to a steroidogenic enzymatic defect. Both conditions are rare and can lead to reduced fertility rate. Case presentation We describe two post-menarche virgin girls with CAH who were hospitalized for acute abdomen due to laparoscopically confirmed sactosalpinx. Case 1 recovered after conservative management, case 2 after a second-look and bilateral salpingectomy. The first case consisted of right sactosalpinx and previous peritonitis reported; the second one of bilateral symptomatic pyosalpinx and previous vaginal stenosis. Recurrent abdominal pain persisted at follow-up in Case 1: post-operative MRI (Magnetic Resonance Imaging) showed bilateral hydrosapinx that disappeared at a following ultrasound scan control. Follow-up was uneventful 36 months after surgery in Case 2, except for the surgical revision of the vaginal introitus. Conclusions CAH-sactosalpinx association is a very rare but not negligible event. We suggest a conservative approach for sactosalpinx if tubal and/or ovary torsion can be excluded. Pyosalpinx is more challenging to treat, but during pediatric age we suggest starting with a conservative approach, especially in patients with CAH who have a potential low fertility rate. Careful gynecological follow-up after menarche is recommended to rule out any further causes of infertility.

scholarly journals Congenital Adrenal Hyperplasia: Diagnostic Pitfalls in Prolonged Neonatal Jaundice

2021 ◽  
Vol 11 (4) ◽  
pp. 870-877
Author(s):  
Nur Athirah Rosli ◽  
Md Yasin Mazapuspavina ◽  
Noor Shafina Mohd Nor
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Jaundice ◽  
Genetic Disorder ◽  
Care Physician ◽  
Adrenal Hyperplasia ◽  
Rare Presentation ◽  
First Case ◽  
Short Synacthen Test

Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that leads to cortisol deficiency. However, prolonged neonatal jaundice is a rare presentation of CAH. The pathophysiology of hyperbilirubinemia in CAH is still ill-defined. Plausible causes are related to the synthesis of bile, maturity of the liver and adrenal function. This case reported a neonate who presented with severe prolonged jaundice that lasted for more than a month. A short Synacthen test confirmed diagnosis of CAH. He was started on steroid replacement. He had regular follow-up under paediatric endocrinologist and primary care physician for long-term monitoring and overall health care. This case demonstrates the importance of recognizing the clinical and biochemical features of CAH for early detection and referral. Long-term follow-up and monitoring is necessary due to the risk of complications and side effects of medications. This is the first case of CAH presented with persistent hyperbilirubinemia to be reported from Malaysia. The case describes the difficult workup that has been encountered in the patient’s care and management.

scholarly journals First reported case of penile prosthesis infection from brucellosis: case report

2020 ◽  
Vol 26 (1) ◽  
Author(s):  
Nabil Nabil Moohialdin ◽  
Ahmad Shamsodini ◽  
Steven K. Wilson ◽  
Osama Abdeljaleel ◽  
Ibrahim Alnadhari ◽  
...  
Keyword(s):  
Case Report ◽  
Broad Spectrum ◽  
Surgical Intervention ◽  
Penile Prosthesis ◽  
Raw Milk ◽  
Prosthesis Infection ◽  
Case Presentation ◽  
First Case ◽  
Milk Ingestion

Abstract Background Infection after the penile prosthesis can be devastating to both the patient and surgeon with various complications and consequences. After introduction of antibiotic-coated implants, the rate of infection has dramatically decreased, but still we see uncommon organisms causing infection. We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. To our knowledge, this is the first reported case of brucellosis penile prosthesis infection. Case presentation We present a first case report of penile prosthesis infection by brucellosis due to raw milk ingestion. A 75-year-old, diabetic male patient presented with penile prosthesis infection 5 months post-penile exchange surgery due to mechanical malfunctioning of 2-piece penile prosthesis which was inserted 11 years ago. The initial treatment with broad spectrum antibiotics did not subside the infection. After diagnosis of brucellosis, the antibiotic was changed to anti-brucellosis (Rifampicin + Tetracycline). The patient improved dramatically and was discharged home with smooth follow-up course. Conclusion Brucellosis can cause infection of penile prosthesis and can be treated with anti-brucellosis antibiotics without necessitating surgical intervention and removal of prosthesis.

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.

scholarly journals Oral myopericytoma: a rare pediatric case report and a review of the literature

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Dalit Porat Ben Amy ◽  
Victoria Yaffe ◽  
Rawan Kawar ◽  
Sharon Akrish ◽  
Imad Abu El-Naaj
Keyword(s):  
Subcutaneous Tissue ◽  
Maxillofacial Surgery ◽  
Young Patients ◽  
Conservative Approach ◽  
Case Presentation ◽  
Mesenchymal Neoplasm ◽  
The Right ◽  
Surgery Department ◽  
Histology And Immunohistochemistry

Abstract Background Myopericytoma is a rare mesenchymal neoplasm with perivascular myoid differentiation that arises most commonly in middle adulthood. The lesion generally involves the subcutaneous tissue of distal extremities. Myopericytoma of the oral cavity is extremely rare. Herein we report a case of oral myopericytoma in a pediatric patient, who was treated via a conservative approach with a follow up of 8 years. The case is followed by a literature review. To our knowledge this is the first documented case of oral myopericytoma affecting a patient of such a young age. Case presentation A 6 years old boy was referred to the maxillofacial surgery department for the evaluation of a solitary growth of the right maxillary buccal and palatal gingiva. Histology and immunohistochemistry confirmed the diagnosis of myopericytoma. Conclusions Our patient was treated by local excision with no recurrence in 8 years of follow up. Conservative approach should be considered for the treatment oral myopericytoma especially in young patients in tooth bearing areas.

scholarly journals The role of imaging in congenital adrenal hyperplasia

2014 ◽  
Vol 58 (7) ◽  
pp. 701-708 ◽  
Author(s):  
Sara Reis Teixeira ◽  
Paula Condé Lamparelli Elias ◽  
Marco Túlio Soares Andrade ◽  
Andrea Farias Melo ◽  
Jorge Elias Junior
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Tumors ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Testicular Adrenal Rest Tumors ◽  
High Incidence ◽  
Adrenal Rest ◽  
Hormonal Evaluation

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

scholarly journals Sonographic features of the testicular adrenal rests tumors in patients with congenital adrenal hyperplasia: a single-center experience and literature review

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Li Ma ◽  
Yu Xia ◽  
Linlin Wang ◽  
Ruifeng Liu ◽  
Xuepei Huang ◽  
...  
Keyword(s):  
Literature Review ◽  
Congenital Adrenal Hyperplasia ◽  
Medical Center ◽  
Semen Analysis ◽  
Steroid Treatment ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Scrotal Ultrasound ◽  
Testicular Lesions

Abstract Purpose Testicular adrenal rests tumor (TART) is a rare kind of benign tumor in the testis. It usually occurred secondary to congenital adrenal hyperplasia (CAH), a hormonal disorder caused by hydroxylase deficiency. As the first-line examination method, ultrasound provides crucial diagnostic information for TART, although misdiagnosis to malignancy is quite common because of its rare prevalence. We aimed to summarize the sonographic manifestations of TART to improve the diagnostic accuracy and specificity. Methods Eight CAH patients with TART identified by ultrasound in our medical center were retrospectively reviewed. Clinical and hormonal profile, semen analysis and treatment choices were collected. Sonographic examinations were performed at the first evaluation and interpreted by experienced radiologists individually. All patients received regular follow-up, and 5 patients undertook repeated scrotal ultrasound. A literature review of TART in CAH patients was conducted, with 123 patients from 23 articles since 1990 included. Results A total of 8 patients aged between 4 to 27 years old were enrolled. 7 of 8 (87.5%) patients exhibited bilateral testicular lesions. The sizes of the testicular lesions were between 0.18 ml to 5.68 ml, and all showed a clear boundary. 10/15 (66.7%) lesions were homogenously hypoechoic, 4/15 (26.7%) were heterogeneously iso-hypoechoic, and 1/15 (6.7%) were homogenously isoechoic. 10/15 (66.7%) lesions were hyper-vascular. The longitudinal follow-up of 5 patients showed testicular lesions changed in terms of size, echogenicity, and vascularity after steroid treatment. A potential correlation may exist between ACTH levels and tumor size (p = 0.066). From the literature review, 100/123 (81%) patients got bilateral lesions, and 95% of them were located near the mediastinum. 80/103 (78%) lesions exhibited a clear boundary, and predominant lesions (74%) were hypoechogenic. Vascularity was with great diversity. Seventy-nine lesions of 44 patients were followed-up by scrotal ultrasound, among which 29 (37%) remained unchanged, 29(37%) shrank, and 21(27%) disappeared. Conclusions Key sonographic characteristics of TART are: resembled lesions on both testes, located near the mediastinum, clear boundary, and changed in size or echogenicity after steroid treatment. These features can help radiologists to make an accurate diagnosis of TART.

Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up

2019 ◽  
Vol 32 (5) ◽  
pp. 519-526 ◽  
Author(s):  
Gabriela Werneck ◽  
Enda M.R. Rodrigues ◽  
Rafael M. Mantovani ◽  
Jovita S.S. Lane ◽  
Ivani N. Silva
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Tumor Progression ◽  
Repeated Measures ◽  
Laboratory Data ◽  
Hormonal Control ◽  
Adrenal Hyperplasia ◽  
Testicular Adrenal Rest Tumors ◽  
Adrenal Rest ◽  
Testicular Adrenal Rest

AbstractBackgroundTesticular adrenal rest tumors (TARTs) leading to primary gonadal failure are the main etiology of infertility in congenital adrenal hyperplasia (CAH). We aimed at identifying the evolution of TART and related findings in young CAH patients.MethodsTwelve male patients (3–23 years old) with 21-hydroxilase deficiency (11 with classic salt-wasting form) were included. Testicular ultrasonography (US) was performed in two moments, by a single blinded specialist in pediatric diagnostic imaging. Tumor progression was classified according to the Response Evaluation Criteria in Solid Tumors (RECIST). The clinical and laboratory data were retrieved from medical records. Serum 17-OH-progesterone (17OHP) and androstenedione concentrations were evaluated during the whole period of follow-up, from the CAH diagnosis. A logistic regression model with repeated measures was developed for the analysis.ResultsThe prevalence of TART was 41.6% (n = 5) in the initial US evaluation and 66.6% (n = 8) after 6 years of follow-up. Tumor progression was detected in 4 of the 5 patients, and 1 presented with a stable tumor. Three patients presented with new tumors in the second evaluation. Most of the patients (n = 11) were pubertal, including a 7-year-old child with TART who presented with central precocious puberty. At regression analysis, it was observed that an inadequate hormonal control led to a 16 times greater chance of a patient to present with TART (OR = 16.08; confidence interval [CI] 95% = 2.38–108.81; p = 0.004).ConclusionsWe found a high prevalence of progressive TART in young pubertal subjects. US testicular screening should help in improving therapeutic optimization in CAH patients to reduce future impairment in fertility.

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