46 XX Male Syndrome with Hypogonadotropic Hypogonadism: A Case Report

Overview

Journal North Clin Istanb

Publisher Kare Publishing

Specialty General Medicine

Date 2019 Oct 26

PMID 31650121

Authors

Mehmet M Yalcin

Cigdem Ozkan

Mujde Akturk

Ferda Emriye Percin

Alev Altinova

Ayhan Karakoc

Goksun Ayvaz

Nuri Cakir

Affiliations

Soon will be listed here.

Abstract

We report a 46 XX male syndrome diagnosed after failure of gonadotropin therapy taken for hypogonadotropic hypogonadism due to a pituitary macroadenoma. A 39-year-old man with a non-functioning pituitary macroadenoma was admitted to our clinic due to vision loss and infertility. After pituitary surgery, vision loss improved while infertility still existed. Low testosterone levels without elevated gonadotropins were established suggesting hypogonadotropic hypogonadism due to pituitary adenoma. Gonadotropin treatment was initiated. There was no response to treatment after 12 months. A karyotype analysis was ordered to investigate other causes of infertility. Karyotype analysis showed a 46 XX male syndrome that can explain the failure of gonadotropin therapy. Testosterone therapy was started instead of gonadotropin therapy. 46 XX male syndrome usually presents with hypergonadotropic hypogonadism. However, in our case, it presented with hypogonadotropic hypogonadism due to pituitary mass not responding to gonadotropin therapy. It is important to keep in mind to obtain a genetic analysis of patients whose gonadotropin therapy failed, even if their gonadotropin levels are not elevated.

References

Coviello A, Matsumoto A, Bremner W, Herbst K, Amory J, Anawalt B . Low-dose human chorionic gonadotropin maintains intratesticular testosterone in normal men with testosterone-induced gonadotropin suppression. J Clin Endocrinol Metab. 2005; 90(5):2595-602. DOI: 10.1210/jc.2004-0802. View

Rajender S, Rajani V, Gupta N, Chakravarty B, Singh L, Thangaraj K . SRY-negative 46,XX male with normal genitals, complete masculinization and infertility. Mol Hum Reprod. 2006; 12(5):341-6. DOI: 10.1093/molehr/gal030. View

Jain M, V V, Chaudhary I, Halder A . The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. J Clin Diagn Res. 2013; 7(7):1457-9. PMC: 3749663. DOI: 10.7860/JCDR/2013/5186.3169. View

de la Chapelle A . The etiology of maleness in XX men. Hum Genet. 1981; 58(1):105-16. DOI: 10.1007/BF00284157. View

Gunes S, Asci R, Okten G, Atac F, Onat O, Ogur G . Two males with SRY-positive 46,XX testicular disorder of sex development. Syst Biol Reprod Med. 2012; 59(1):42-7. DOI: 10.3109/19396368.2012.731624. View

Anik A, Catli G, Abaci A, Bober E . 46,XX male disorder of sexual development:a case report. J Clin Res Pediatr Endocrinol. 2014; 5(4):258-60. PMC: 3890225. DOI: 10.4274/Jcrpe.1098. View

Agrawala R, Choudhury A, Mohanty B, Baliarsinha A . All males do not have 46 xy karyotype: A rare case report. Indian J Endocrinol Metab. 2013; 17(Suppl 1):S271-3. PMC: 3830330. DOI: 10.4103/2230-8210.119603. View

Barrio R, de Luis D, Alonso M, Lamas A, Moreno J . Induction of puberty with human chorionic gonadotropin and follicle-stimulating hormone in adolescent males with hypogonadotropic hypogonadism. Fertil Steril. 1999; 71(2):244-8. DOI: 10.1016/s0015-0282(98)00450-6. View

Wang T, Liu J, Yang J, Chen J, Ye Z . 46, XX male sex reversal syndrome: a case report and review of the genetic basis. Andrologia. 2009; 41(1):59-62. DOI: 10.1111/j.1439-0272.2008.00889.x. View

10.

Martin R . Cytogenetic determinants of male fertility. Hum Reprod Update. 2008; 14(4):379-90. PMC: 2423221. DOI: 10.1093/humupd/dmn017. View

11.

Anawalt B . Approach to male infertility and induction of spermatogenesis. J Clin Endocrinol Metab. 2013; 98(9):3532-42. PMC: 3763976. DOI: 10.1210/jc.2012-2400. View

12.

Gao X, Chen G, Huang J, Bai Q, Zhao N, Shao M . Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports. J Assist Reprod Genet. 2013; 30(3):431-5. PMC: 3607678. DOI: 10.1007/s10815-013-9939-7. View

13.

Hofherr S, Wiktor A, Kipp B, Dawson D, Van Dyke D . Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience. J Assist Reprod Genet. 2011; 28(11):1091-8. PMC: 3224174. DOI: 10.1007/s10815-011-9633-6. View

14.

Jungwirth A, Giwercman A, Tournaye H, Diemer T, Kopa Z, Dohle G . European Association of Urology guidelines on Male Infertility: the 2012 update. Eur Urol. 2012; 62(2):324-32. DOI: 10.1016/j.eururo.2012.04.048. View

15.

Fraietta R, Zylberstejn D, Esteves S . Hypogonadotropic hypogonadism revisited. Clinics (Sao Paulo). 2013; 68 Suppl 1:81-8. PMC: 3583156. DOI: 10.6061/clinics/2013(sup01)09. View

16.

Chiang H, Wu Y, Wu C, Hwang J . Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin. J Formos Med Assoc. 2013; 112(2):72-8. DOI: 10.1016/j.jfma.2012.02.009. View

17.

Oldereid N, Abyholm T, Tanbo T . Spermatogenesis and fertility outcome in male hypogonadotrophic hypogonadism. Hum Fertil (Camb). 2010; 13(2):83-9. DOI: 10.3109/14647271003639723. View

18.

Fruhmesser A, Kotzot D . Chromosomal variants in klinefelter syndrome. Sex Dev. 2011; 5(3):109-23. DOI: 10.1159/000327324. View

19.

Layman L . Hypogonadotropic hypogonadism. Endocrinol Metab Clin North Am. 2007; 36(2):283-96. DOI: 10.1016/j.ecl.2007.03.010. View

20.

Roth M, Page S, Lin K, Anawalt B, Matsumoto A, Snyder C . Dose-dependent increase in intratesticular testosterone by very low-dose human chorionic gonadotropin in normal men with experimental gonadotropin deficiency. J Clin Endocrinol Metab. 2010; 95(8):3806-13. PMC: 2913032. DOI: 10.1210/jc.2010-0360. View