Fréquence du syndrome métabolique chez les patients suivis pour un syndrome de Klinefelter dans la cohorte DSD Life (FP7-Health-Innovation – clinical European s tudy on the outcome of surgical and hormonal therapy and psychological intervention in disorders of sex development )

2017 ◽  
Vol 78 (4) ◽  
pp. 248
Author(s):  
S. Grunenwald ◽  
A. Cartault ◽  
A. Gallini ◽  
A. Brac ◽  
M. Tauber ◽  
...  
2019 ◽  
Vol 3 (2) ◽  
pp. 10-18
Author(s):  
Ziske Maritska ◽  
Bintang Arroyantri Prananjaya ◽  
Andhika Diaz Maulana

ABSTRACT Background. Disorders of Sex Development (DSD) is a term used to describe a congenital condition where sex chromosomes, gonads, and or anatomy of a person are atypical.  It is estimated to affect 1:4,500 people worlwide with varied clinical findings, hence the integrated and diverse interventions. Objective. This study wished to observe the many interventions DSD patients received in Dr. Mohammad Hoesin Hospital as one of the national reference hospitals in Indonesia for South Sumatera region. Methods. Medical records of 173 patients with clinical findings in accordance with DSD spectrum during 2013-2017 was observed in order to identify both surgical and medical interventions applied. Results. Sixty two patients were diagnosed of having hypospadias (35.84%), making it the most common clinical finding among DSD patients in this hospital.  Surgical intervention was the most favored intervention, with 155 patients (89.6%) underwent various surgeries, ranging from urethroplasty to vaginoplasty and many more.  Five patients(2.9%) were treated with either hydrocortisone and florinef, or both.  One patient diagnosed with Congenital Adrenal Hyperplasia (CAH) had both surgical and medical intervention. Conclusion. DSD gives a wide phenotypic spectrum, making its management both challenging and complicated.  Surgical, medical, and or a combination of both are the indispensable interventions when dealing with DSD patients.  Study focusing on psychological intervention for DSD patients is further needed.   Keyword: Disorders of Sex Development, DSD, surgical, medical, intervention.


Author(s):  
Kazuhisa Akiba ◽  
Keiko Aso ◽  
Yukihiro Hasegawa ◽  
Maki Fukami

Abstract Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. Case presentation A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. Conclusions This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.


2012 ◽  
Vol 8 (6) ◽  
pp. 576-584 ◽  
Author(s):  
Lyn S. Chitty ◽  
Pierre Chatelain ◽  
Katja P. Wolffenbuttel ◽  
Yves Aigrain

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