First Case of Bacteremia Caused by Kytococcus schroeteri in a Child With Congenital Adrenal Hyperplasia

2018 ◽  
Vol 37 (12) ◽  
pp. e304-e305 ◽  
Author(s):  
Banu Bayraktar ◽  
Nazan Dalgic ◽  
Nurcan Duman ◽  
Ercüment Petmezci
2007 ◽  
Vol 40 (18) ◽  
pp. 1435-1436
Author(s):  
Paola Concolino ◽  
Salvatore Corsello ◽  
Cinzia Carrozza ◽  
Angelo Minucci ◽  
Concetta Santonocito ◽  
...  

2021 ◽  
Vol 11 ◽  
Author(s):  
Claudia Giavoli ◽  
Enrico Iurlaro ◽  
Valentina Morelli ◽  
Giulia Rodari ◽  
Andrea Ronchi ◽  
...  

BackgroundThe impact of the Covid-19 infection on patients with chronic endocrine disease is not fully known. We describe here the first case of a pregnant woman with Covid-19 acute infection and non-classical congenital adrenal hyperplasia (NCAH).Case descriptionA woman at 36 weeks of gestation was referred to our Maternity Hospital for premature rupture of membranes (PROM). Her medical history was positive for NCAH on chronic steroid replacement till the age of 17 years (cortisone acetate and dexamethasone, both in the morning). At admission, her naso-oro-pharyngeal swab resulted positive for SARS-CoV-2. Due to hyperpyrexia and late preterm PROM, cesarean section was planned, and she was started on a 100 mg-bolus of hydrocortisone, followed by continuous infusion of 200 mg/24 h. A female neonate in good clinical condition and with a negative nasopharyngeal Covid-19 swab was delivered. On second postpartum day, the mother was in good condition and was switched to oral steroid therapy. On third postpartum day she worsened, with radiological signs of acute pulmonary embolism. Oro-tracheal intubation and mechanical ventilation were started, and she was switched back to intravenous steroid therapy. On April 30, pulmonary embolism was resolved, and on May 13th she was discharged in good condition.ConclusionsWe report the first case of Covid-19 acute infection that occurred in late-pregnancy in a woman with NCAH on chronic steroid replacement. The management of the patient in a reference center with early involvement of a multidisciplinary team granted prompt care and adequate protection for all the involved sanitary operators.


2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Moritake Higa ◽  
Akiko Zaha ◽  
Akiko Takushi ◽  
Nami Morishima ◽  
Toyofumi Majikina ◽  
...  

AbstractWe report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.


1970 ◽  
Vol 65 (4) ◽  
pp. 627-638 ◽  
Author(s):  
G. Mürset ◽  
M. Zachmann ◽  
A. Prader ◽  
]. Fischer ◽  
A. Labhart

ABSTRACT A 7-year-old normal looking »boy« presented bilateral cyptorchidism. At surgery female internal genitalia (uterus, Fallopian tubes, ovaries) were found. The caryotype was 46 XX. Congenital adrenal hyperplasia could be excluded and no androgens or gestagens were given to the mother during pregnancy. The mother in spite of regular menstrual cycles showed some signs of virilization. Further examination revealed the presence of an adrenal cortical adenoma in the mother. To our knowledge, this is the first case of complete masculinization of a girl caused by an adrenal tumour in the mother.


2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Maria-Grazia Scarpa ◽  
Marianna Iaquinto ◽  
Daniela Codrich ◽  
Jürgen Schleef

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.


Author(s):  
Asmahan Abdalla ◽  
Mohammed Abdulrahman Alhassan ◽  
Reem Tawfeeg ◽  
Ayman Sanad ◽  
Hasan Tawamie ◽  
...  

Summary Systemic pseudohypoaldosteronism type 1 (PHA1) is a rare genetic syndrome of tissue unresponsiveness to aldosterone caused by mutations affecting the epithelial Na channel (ENaC). The classical presentation is life-threatening neonatal/infantile salt-losing crises that mimic congenital adrenal hyperplasia (CAH). Consistently, extra-renal manifestations, including respiratory symptoms that resemble cystic fibrosis, are well reported. Clinical diagnosis is made by the presence of hyponatremia, hyperkalemia, metabolic acidosis, respiratory symptoms, evidence of high renal and extra-renal salt loss in addition to high plasma renin and aldosterone levels. We herein report a novel manifestation of PHA1: episodic dyslipidemia in a 7-month-old Sudanese boy that occurred during the salt-losing crises. Whole exome sequencing of the patient revealed one homozygous missense variant c.1636G>A p.(Asp546Asn) in the SCNN1B gene, confirming our clinical and laboratory findings that were compatible with PHA1. This report aims to highlight the possible explanation of dyslipidemia in PHA1 and its expected consequences in the long term. Learning points A child presenting with features that mimic salt-losing congenital adrenal hyperplasia (CAH) crises that do not respond to glucocorticoid and mineralocorticoid therapy should alert the pediatricians to the possibility of end-organ resistance to aldosterone. Pseudohypoaldosteronism type 1 (PHA1) can be diagnosed even in the absence of advanced laboratory investigations. To our knowledge, this is the first case of systemic PHA1 to have a documented episodic dyslipidemia (primarily as marked hypertriglyceridemia).


2021 ◽  
Vol 11 (4) ◽  
pp. 870-877
Author(s):  
Nur Athirah Rosli ◽  
Md Yasin Mazapuspavina ◽  
Noor Shafina Mohd Nor

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.


2014 ◽  
Vol 29 (1) ◽  
pp. 55-59 ◽  
Author(s):  
Waad-Allah S. Mula-Abed ◽  
Fathima B. Pambinezhuth ◽  
Manal K. Al-Kindi ◽  
Noor B. Al-Busaidi ◽  
Hilal N. Al-Muslahi ◽  
...  

2007 ◽  
Vol 177 (4S) ◽  
pp. 307-307
Author(s):  
Ariella Hochsztein ◽  
Rebecca Baergen ◽  
Emily Loyd ◽  
Jie Chen ◽  
Diane Felsen ◽  
...  

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