scholarly journals Phenotype variation among siblings with 5-alpha reductase deficiency: A case series

2021 ◽  
Vol 37 (2) ◽  
pp. 183
Author(s):  
VijaySheker Reddy Danda ◽  
DSandeep Reddy ◽  
SrinivasRao Paidipally
Keyword(s):  
Case Series ◽  
Phenotype Variation ◽  
Reductase Deficiency

The spectrum of 46XY disorders of sex development in a University centre in Saudi Arabia

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Nasir A.M. Al-Jurayyan ◽  
Sharifah D.A. Al Issa ◽  
Abdulrahman M.H. Al Nemri ◽  
Hessah M.N. Al Otaibi ◽  
Amir M.I. Babiker
Keyword(s):  
Saudi Arabia ◽  
Wide Spectrum ◽  
Disorders Of Sex Development ◽  
Case Series ◽  
Clinical Spectrum ◽  
University Hospital ◽  
Androgen Insensitivity ◽  
Reductase Deficiency ◽  
Sex Development ◽  
Number Of Patients

AbstractThe term disorders of sex development (DSD) includes congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The spectrum of the 46XY (DSD) is so broad. In this study, we reviewed the clinical spectrum of a cohort of patients with 46XY DSD in a tertiary institute in the Middle East over two decades.To define the clinical spectrum of 46XY DSD in a major teaching hospital, Riyadh, Saudi Arabia.This is a retrospective, case series hospital-based study. The case notes, laboratory investigations, and imaging studies were reviewed for patients with 46XY DSD over a 20 years period (1989–2010) at King Khalid University Hospital, Riyadh, Saudi Arabia. Molecular genetics were not available in all patients.During the period under review; a total of 56 patients were seen with 46XY DSD due to variable etiologies. Androgen insensitivity syndromes (AIS) and 5-α-reductase deficiency were among the commonest (44.6%), with multiple siblings involvement within the family. Of these, 16 patients were showing variable degrees of insensitivity ranging between complete (n=5, 31.2%) and partial (n=11, 68.8%) insensitivity, whereas in nine patients the diagnosis of 5-α-reductase deficiency was entertained based on hormonal studies. Of interest to see was a high number of patients (n=14, 25%) either with a localized congenital anomalies such as the cloacal anomalies or generalized congenital malformations following the pattern of certain syndromes.A wide spectrum of causes were noted. Androgen insensitivity syndrome was the commonest. In Saudi Arabia, where consanguineous mating is high, 5-α-reductase is also a common cause of 46XY DSD.

Abstract #856 A Case Series Review of Clinical and Biochemical Characteristics of Pituitary Abcess in Mexican Patients

2018 ◽  
Vol 24 ◽  
pp. 202-203
Author(s):  
Mireya Perez-Guzman ◽  
Alfredo Nava de la Vega ◽  
Arturo Pena Velarde ◽  
Tania Raisha Torres Victoria ◽  
Froylan Martinez-Sanchez ◽  
...  
Keyword(s):  
Case Series ◽  
Biochemical Characteristics ◽  
Mexican Patients

Cannabis-associated arteritis

VASA ◽  
2010 ◽  
Vol 39 (1) ◽  
pp. 43-53 ◽  
Author(s):  
Grotenhermen
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Case Series ◽  
Cardiovascular Effects ◽  
Causative Factor ◽  
Cannabis Use ◽  
Thromboangiitis Obliterans ◽  
Pathological Features ◽  
Scientific Support ◽  
Clinical And Pathological Features

Background: To investigate the hypothesis that cases of arteritis similar to thromboangiitis obliterans (TAO) and associated with the use of cannabis were caused by cannabis or THC (dronabinol), or that cannabis use is a co-factor of TAO. Patients and methods: A systematic review on case reports and the literature on so-called cannabis arteritis, TAO, and cardiovascular effects of cannabinoids was conducted. Results: Fifteen reports with 57 cases of an arteritis associated with the use of cannabis and two additional case series of TAO, in which some patients also used cannabis, were identified. Clinical and pathological features of cannabis-associated arteritis do not differ from TAO and the major risk factor of TAO, tobacco use, was present in most, if not in all of these cases. The proposed pathophysiological mechanisms for the development of an arteritis by cannabis use are not substantiated. Conclusions: The hypothesis of cannabis being a causative factor or co-factor of TAO or an arteritis similar to TAO is not supported by the available evidence. The use of the term “cannabis arteritis” should be avoided until or unless more convincing scientific support is forthcoming.

Online STD Case Series

2003 ◽  
Author(s):  
Keyword(s):  
Case Series

Propranolol Weakens Trauma-Related Psychophysiological Arousal: A Case Series

2009 ◽  
Author(s):  
Emilie Thomas ◽  
Joaquin Poundja ◽  
Alain Brunet ◽  
Jacques Tremblay
Keyword(s):  
Case Series ◽  
Psychophysiological Arousal

Habituation of stress in psychotherapists performing subsequent in vivo exposures—A case series.

2017 ◽  
Vol 27 (2) ◽  
pp. 218-224 ◽  
Author(s):  
Sarah Schumacher ◽  
Felix Betzler ◽  
Robert Miller ◽  
Clemens Kirschbaum ◽  
Andreas Ströhle
Keyword(s):  
Case Series
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