Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic
azoospermia
congenital
disorder of sex development
gonadal dysgenesis
hypospadias
male infertility
spermatogenesis
testicular sperm extraction
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
22
02
2023
accepted:
26
05
2023
medline:
7
7
2023
pubmed:
6
7
2023
entrez:
6
7
2023
Statut:
epublish
Résumé
Steroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 ( The aim was to offer fertility preservation at the end of puberty in an The patient was born of non-consanguineous parents, with a disorder of sex development, a small genital bud, perineal hypospadias, and gonads in the left labioscrotal fold and the right inguinal region. Neither uterus nor vagina was detected. The karyotype was 46,XY. Anti-Müllerian hormone (AMH) and testosterone levels were low, indicating testicular dysgenesis. The child was raised as a boy. At 9 years old, he presented with precocious puberty treated by triptorelin. At puberty, follicle-stimulating hormone (FSH), luteinising hormone (LH), and testosterone levels increased, whereas AMH, inhibin B, and testicular volume were low, suggesting an impaired Sertoli cell function and a partially preserved Leydig cell function. A genetic study performed at almost 15 years old identified the new frameshift variant NM_004959.5: c.207del p.(Phe70Ser We report a case with a new
Sections du résumé
Background
Steroidogenic factor 1 (SF-1), encoded by the nuclear receptor subfamily 5 group A member 1 (
Objective
The aim was to offer fertility preservation at the end of puberty in an
Case report
The patient was born of non-consanguineous parents, with a disorder of sex development, a small genital bud, perineal hypospadias, and gonads in the left labioscrotal fold and the right inguinal region. Neither uterus nor vagina was detected. The karyotype was 46,XY. Anti-Müllerian hormone (AMH) and testosterone levels were low, indicating testicular dysgenesis. The child was raised as a boy. At 9 years old, he presented with precocious puberty treated by triptorelin. At puberty, follicle-stimulating hormone (FSH), luteinising hormone (LH), and testosterone levels increased, whereas AMH, inhibin B, and testicular volume were low, suggesting an impaired Sertoli cell function and a partially preserved Leydig cell function. A genetic study performed at almost 15 years old identified the new frameshift variant NM_004959.5: c.207del p.(Phe70Ser
Conclusion
We report a case with a new
Identifiants
pubmed: 37409232
doi: 10.3389/fendo.2023.1171822
pmc: PMC10319352
doi:
Substances chimiques
Anti-Mullerian Hormone
80497-65-0
Steroidogenic Factor 1
0
Testosterone
3XMK78S47O
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1171822Informations de copyright
Copyright © 2023 Teoli, Mallet, Renault, Gay, Labrune, Bretones, Giscard D’Estaing, Cuzin, Dijoud, Roucher-Boulez and Plotton.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Hum Mol Genet. 2014 Jul 15;23(14):3657-65
pubmed: 24549039
Mol Cell Endocrinol. 2010 Feb 5;315(1-2):27-39
pubmed: 19616058
Eur J Endocrinol. 2015 Jun;172(6):669-76
pubmed: 25740852
Hum Reprod Update. 2019 Nov 5;25(6):733-757
pubmed: 31665451
J Clin Endocrinol Metab. 2007 Mar;92(3):991-9
pubmed: 17200175
J Clin Endocrinol Metab. 2022 Jun 16;107(7):1878-1887
pubmed: 35396994
Fertil Steril. 2018 Jun;109(6):1105-1113
pubmed: 29935645
J Clin Endocrinol Metab. 1997 Dec;82(12):4059-63
pubmed: 9398713
J Clin Endocrinol Metab. 2004 Dec;89(12):5930-5
pubmed: 15579739
Biol Reprod. 2016 Oct;95(4):89
pubmed: 27580986
Mol Endocrinol. 1995 Apr;9(4):478-86
pubmed: 7659091
Endocr Dev. 2003;5:38-55
pubmed: 12629891
Fertil Steril. 2006 Aug;86(2):332-8
pubmed: 16764873
Front Physiol. 2022 Jun 02;13:884122
pubmed: 35721544
Nat Genet. 1999 Jun;22(2):125-6
pubmed: 10369247
PLoS One. 2017 May 1;12(5):e0176720
pubmed: 28459839
Sex Dev. 2019;13(5-6):258-263
pubmed: 32369823
Clin Endocrinol (Oxf). 2021 Apr;94(4):656-666
pubmed: 33296094
Front Endocrinol (Lausanne). 2020 Apr 15;11:211
pubmed: 32351452
Horm Res Paediatr. 2011;75(1):70-7
pubmed: 20861607
Mol Endocrinol. 1992 Aug;6(8):1249-58
pubmed: 1406703
Endocrine. 2022 Feb;75(2):601-613
pubmed: 34613524
Fertil Steril. 2011 Apr;95(5):1788.e5-9
pubmed: 21163476
Hum Mutat. 2020 Jan;41(1):58-68
pubmed: 31513305
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Horm Res Paediatr. 2012;78(2):119-26
pubmed: 22907560
J Assist Reprod Genet. 2021 Aug;38(8):1997-2005
pubmed: 33728612
Am J Med Genet A. 2014 Nov;164A(11):2938-46
pubmed: 25160005
Semin Reprod Med. 2012 Oct;30(5):374-81
pubmed: 23044873
Hum Genome Var. 2017 Mar 16;4:17008
pubmed: 28326187
PLoS One. 2014 Aug 14;9(8):e104838
pubmed: 25122490
World J Mens Health. 2016 Aug;34(2):101-9
pubmed: 27574593
Endocrinology. 2002 Feb;143(2):607-14
pubmed: 11796516
Am J Hum Genet. 2010 Oct 8;87(4):505-12
pubmed: 20887963
Hum Mol Genet. 1999;8(10):1893-900
pubmed: 10469842
Endocr J. 2015;62(3):289-95
pubmed: 25502990
Fertil Steril. 2015 Jul;104(1):163-9.e1
pubmed: 25989977
Eur J Endocrinol. 2012 Jul;167(1):125-30
pubmed: 22474171
Congenit Anom (Kyoto). 2022 Sep;62(5):203-207
pubmed: 35751412
J Mol Endocrinol. 1996 Oct;17(2):139-47
pubmed: 8938589
Hormones. 1970;1(1):2-25
pubmed: 5527187
Reprod Biol Endocrinol. 2010 Mar 19;8:28
pubmed: 20302644
Front Endocrinol (Lausanne). 2022 May 24;13:898876
pubmed: 35685219
Clin Endocrinol (Oxf). 2002 Feb;56(2):215-21
pubmed: 11874413
J Clin Endocrinol Metab. 2015 Mar;100(3):961-7
pubmed: 25423570
J Clin Endocrinol Metab. 2012 Jul;97(7):E1294-306
pubmed: 22549935
Eur J Hum Genet. 2013 Sep;21(9):1012-5
pubmed: 23299922