ID

45670

Beschreibung

Principal Investigator: Faruk Hadziselimovic, MD, Cryptorchidism Research Institute, Kindermedizinisches Zentrum Liestal, Switzerland MeSH: Cryptorchidism,Idiopathic Hypogonadotropic Hypogonadism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001275 Differential Gene Expression in Cryptorchid Testes Study uses whole-genome RNA profiling of testicular biopsies to determine a potential causative role of isolated congenital cryptorchidism in azoospermia and/or infertility in the context of our previously published GeneChip data. Cryptorchid patients, aged 7 months to 5 years and otherwise healthy, were enrolled in this prospective study. During surgery, testicular tissue biopsies were obtained for histological examination and RNA-sequencing (RNA-seq). Fifteen patients were selected based on the histological results and were divided into two groups. Seven were classified as belonging to the high infertility risk (HIR) and eight to the low infertility risk (LIR) group. Cryptorchid boys in the high infertility risk group lacked transformation of gonocytes into Ad spermatogonia due to impaired mini puberty. This group of patients will be infertile despite successful surgery.

Link

dbGaP study = phs001275

Stichworte

Versionen (1)
  1. 04.04.23 04.04.23 - Simon Heim
Rechteinhaber

Faruk Hadziselimovic, MD, Cryptorchidism Research Institute, Kindermedizinisches Zentrum Liestal, Switzerland

Hochgeladen am

4. April 2023

DOI

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Creative Commons BY 4.0
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dbGaP phs001275 Differential Gene Expression in Cryptorchid Testes

Englisch

Eligibility Criteria

5 Formulare  
Inclusion and exclusion criteria
Beschreibung

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Cryptorchid boys (seven unilateral and eight bilateral undescended testes) had a median age of 15 months (range 7-55 months). Patients had no prior hormonal or surgical treatment. Cryptorchid testis is defined as a testis localized outside the scrotum and incapable of being brought into a stable scrotal position. All undescended testes in this study were located in the inguinal region. Cryptorchid boys entering the study underwent an extensive clinical examination with no clinical signs of developmental malformations or syndromes. Performing clinical examination in accordance with STROBE-criteria for case-controlled studies, we excluded small testes, small penis, lack of normal scrotal rugae and pigmentation, gynecomastia and mild anemia. We further determined serum follicle stimulating hormone levels, luteinizing hormone levels, testosterone levels and inhibin levels [Verkauskas et al., 2016]. No MRI scans of the brain and sella turcica were performed. No clinical symptoms were found for hyperprolactinemia, pituitary lesions (tumor, granuloma and abscess), Cushing syndrome, severe or chronic illness, trauma or surgery and genetic mutations as Prader Willi syndrome. None of our patients suffered from a systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.
Beschreibung

Cryptorchid boys (seven unilateral and eight bilateral undescended testes) had a median age of 15 months (range 7-55 months). Patients had no prior hormonal or surgical treatment. Cryptorchid testis is defined as a testis localized outside the scrotum and incapable of being brought into a stable scrotal position. All undescended testes in this study were located in the inguinal region. Cryptorchid boys entering the study underwent an extensive clinical examination with no clinical signs of developmental malformations or syndromes. Performing clinical examination in accordance with STROBE-criteria for case-controlled studies, we excluded small testes, small penis, lack of normal scrotal rugae and pigmentation, gynecomastia and mild anemia. We further determined serum follicle stimulating hormone levels, luteinizing hormone levels, testosterone levels and inhibin levels [Verkauskas et al., 2016]. No MRI scans of the brain and sella turcica were performed. No clinical symptoms were found for hyperprolactinemia, pituitary lesions (tumor, granuloma and abscess), Cushing syndrome, severe or chronic illness, trauma or surgery and genetic mutations as Prader Willi syndrome. None of our patients suffered from a systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.

Datentyp

boolean

Alias
UMLS CUI [1,1]
C3687555
UMLS CUI [1,2]
C0876920
UMLS CUI [1,3]
C0001779
UMLS CUI [1,4]
C4489231
UMLS CUI [1,5]
C0458083
UMLS CUI [1,6]
C0543467
UMLS CUI [1,7]
C0679227
UMLS CUI [1,8]
C0457932
UMLS CUI [1,9]
C0018246
UMLS CUI [1,10]
C0031809
UMLS CUI [1,11]
C0000768
UMLS CUI [1,12]
C0243161
UMLS CUI [1,13]
C0007328
UMLS CUI [2,1]
C2828389
UMLS CUI [2,2]
C0241355
UMLS CUI [2,3]
C0240701
UMLS CUI [2,4]
C3846158
UMLS CUI [2,5]
C0018418
UMLS CUI [2,6]
C1858586
UMLS CUI [3,1]
C0455276
UMLS CUI [3,2]
C1268933
UMLS CUI [3,3]
C0428412
UMLS CUI [3,4]
C1533582
UMLS CUI [4,1]
C1518422
UMLS CUI [4,2]
C5189582
UMLS CUI [4,3]
C1457887
UMLS CUI [4,4]
C0020514
UMLS CUI [4,5]
C0032002
UMLS CUI [4,6]
C0010481
UMLS CUI [4,7]
C0008679
UMLS CUI [4,8]
C3714660
UMLS CUI [4,9]
C0543467
UMLS CUI [4,10]
C0026882
UMLS CUI [4,11]
C0032897
UMLS CUI [4,12]
C0442893
UMLS CUI [4,13]
C0018995
UMLS CUI [4,14]
C0036202
UMLS CUI [4,15]
C1455705
Zum Seitenanfang zurückkehren

Ähnliche Modelle

Eligibility Criteria

5 Formulare
Name
Typ
Description | Question | Decode (Coded Value)
Datentyp
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Cryptorchid boys (seven unilateral and eight bilateral undescended testes) had a median age of 15 months (range 7-55 months). Patients had no prior hormonal or surgical treatment. Cryptorchid testis is defined as a testis localized outside the scrotum and incapable of being brought into a stable scrotal position. All undescended testes in this study were located in the inguinal region. Cryptorchid boys entering the study underwent an extensive clinical examination with no clinical signs of developmental malformations or syndromes. Performing clinical examination in accordance with STROBE-criteria for case-controlled studies, we excluded small testes, small penis, lack of normal scrotal rugae and pigmentation, gynecomastia and mild anemia. We further determined serum follicle stimulating hormone levels, luteinizing hormone levels, testosterone levels and inhibin levels [Verkauskas et al., 2016]. No MRI scans of the brain and sella turcica were performed. No clinical symptoms were found for hyperprolactinemia, pituitary lesions (tumor, granuloma and abscess), Cushing syndrome, severe or chronic illness, trauma or surgery and genetic mutations as Prader Willi syndrome. None of our patients suffered from a systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.
Item
Cryptorchid boys (seven unilateral and eight bilateral undescended testes) had a median age of 15 months (range 7-55 months). Patients had no prior hormonal or surgical treatment. Cryptorchid testis is defined as a testis localized outside the scrotum and incapable of being brought into a stable scrotal position. All undescended testes in this study were located in the inguinal region. Cryptorchid boys entering the study underwent an extensive clinical examination with no clinical signs of developmental malformations or syndromes. Performing clinical examination in accordance with STROBE-criteria for case-controlled studies, we excluded small testes, small penis, lack of normal scrotal rugae and pigmentation, gynecomastia and mild anemia. We further determined serum follicle stimulating hormone levels, luteinizing hormone levels, testosterone levels and inhibin levels [Verkauskas et al., 2016]. No MRI scans of the brain and sella turcica were performed. No clinical symptoms were found for hyperprolactinemia, pituitary lesions (tumor, granuloma and abscess), Cushing syndrome, severe or chronic illness, trauma or surgery and genetic mutations as Prader Willi syndrome. None of our patients suffered from a systemic diseases such as hemochromatosis, sarcoidosis and histiocytosis X.
boolean
C3687555 (UMLS CUI [1,1])
C0876920 (UMLS CUI [1,2])
C0001779 (UMLS CUI [1,3])
C4489231 (UMLS CUI [1,4])
C0458083 (UMLS CUI [1,5])
C0543467 (UMLS CUI [1,6])
C0679227 (UMLS CUI [1,7])
C0457932 (UMLS CUI [1,8])
C0018246 (UMLS CUI [1,9])
C0031809 (UMLS CUI [1,10])
C0000768 (UMLS CUI [1,11])
C0243161 (UMLS CUI [1,12])
C0007328 (UMLS CUI [1,13])
C2828389 (UMLS CUI [2,1])
C0241355 (UMLS CUI [2,2])
C0240701 (UMLS CUI [2,3])
C3846158 (UMLS CUI [2,4])
C0018418 (UMLS CUI [2,5])
C1858586 (UMLS CUI [2,6])
C0455276 (UMLS CUI [3,1])
C1268933 (UMLS CUI [3,2])
C0428412 (UMLS CUI [3,3])
C1533582 (UMLS CUI [3,4])
C1518422 (UMLS CUI [4,1])
C5189582 (UMLS CUI [4,2])
C1457887 (UMLS CUI [4,3])
C0020514 (UMLS CUI [4,4])
C0032002 (UMLS CUI [4,5])
C0010481 (UMLS CUI [4,6])
C0008679 (UMLS CUI [4,7])
C3714660 (UMLS CUI [4,8])
C0543467 (UMLS CUI [4,9])
C0026882 (UMLS CUI [4,10])
C0032897 (UMLS CUI [4,11])
C0442893 (UMLS CUI [4,12])
C0018995 (UMLS CUI [4,13])
C0036202 (UMLS CUI [4,14])
C1455705 (UMLS CUI [4,15])
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