Special topic: 5-alpha reductase deficiency

5-alpha reductase deficiency

General reference
Technical reference
Case series & case reports
Clinical guidance & experience
Clinical trials
Original investigations
Psychological, social & cultural studies
Reviews & commentary

General reference

Kumar G, Barboza-Meca JJ. 5 alpha reductase deficiency – NCBI Bookshelf. StatPearls Publishing. 2020 Jan.

MedlinePlus. National Library of Medicine (US). 5-alpha reductase deficiency.

Sources on guevedoces & early history of finasteride. Finasteride Info.

Technical reference

Conte FA, Grumbach MM. Chapter 14. Disorders of sex determination and differentiation. In: Gardner DG, Shoback D, eds. Greenspan’s Basic & Clinical Endocrinology, 9e. The McGraw-Hill Companies; 2011. Full text at McGraw-Hill Medical

Imperato-McGinley J. 5alpha-reductase-2 deficiency and complete androgen insensitivity: lessons from nature. Adv Exp Med Biol. 2002. doi:10.1007/978-1-4615-0621-8_8 • PubMed

Case series & case reports

Cai LQ, Fratianni CM, Gautier T, Imperato-McGinley J. Dihydrotestosterone regulation of semen in male pseudohermaphrodites with 5 alpha-reductase-2 deficiency. J Clin Endocrinol Metab. 1994. doi:10.1210/jcem.79.2.8045956 • PubMed

Cai LQ, Zhu YS, Katz MD, et al. 5 alpha-reductase-2 gene mutations in the Dominican Republic. J Clin Endocrinol Metab. 1996. doi:10.1210/jcem.81.5.8626825 • PubMed

Cantu J, Hernández-Montes H, del Castillo V, et al. Potential fertility in incomplete male pseudohermaphroditism type 2. Rev Invest Clin (Méx). 1976 Apr-Jun;28(2):177-182. PubMed

Carpenter TO, Imperato-McGinley J, Boulware SD, et al. Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin. J Clin Endocrinol Metab. 1990. doi:10.1210/jcem-71-2-318 • PubMed

Cheng T, Wang H, Han B, et al. Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency. Asian J Androl. 2019. doi:10.4103/aja.aja_113_18 • PubMed

Deeb A, Al Suwaidi H, Ibukunoluwa F, Attia S. Phenotype, sex of rearing, gender re-assignment, and response to medical treatment in extended family members with a novel mutation in the SRD5A2 gene. J Clin Res Pediatr Endocrinol. 2016. doi:10.4274/jcrpe.2782 • PubMed • PMC full text

[Conference abstract] Imperato-McGinley J. Guerrero L, Gautier T, Peterson RE. 93. An unusual inherited form of male pseudohermaphroditism. A model of 5α-reductase deficiency in man. Journal of Steroid Biochemistry. 1974. doi:10.1016/0022-4731(74)90238-6

Gajdusek DC. Urgent opportunistic observations: the study of changing, transient and disappearing phenomena of medical interest in disrupted primitive human communities. In: Elliott K, Whelan J, eds. Novartis Foundation Symposia. John Wiley & Sons, Ltd.; 2008. doi:10.1002/9780470715406.ch5

Herdt GH, Davidson J. The Sambia “Turnim-Man”: sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea. Arch Sex Behav. 1988. doi:10.1007/BF01542051

Herdt GH, Stoller RJ. Sakulambei—a hermaphrodite’s secret: an example of clinical ethnography. The Psychoanalytic Study of Society. 1985;11:117-158. doi:10.4324/9781315791920-4

Hernandez LO, Inchaustegui S, Arguello CN. Los casos de pseudo-hermafroditismo en la Sección de las Salinas, Prov. de Barahona. Revista médica dominicana. 1951;6(2):114–136.

This may be the first article on male pseudohermaphrodites in Las Salinas, Dominican Republic, where Imperato-McGinley et al. investigated the condition in the 1970s (see Imperato-McGinley et al., 1974 and subsequent papers).

Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE. Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science. 1974. doi:10.1126/science.186.4170.1213 • PubMed

Jong D, Pulungan A, Tridjaja B, Batubara JRL. 5-alpha-reductase deficiency: a case report. 2016. doi:10.14238/pi43.6.2003.234-40

Katz MD, Kligman I, Cai LQ, et al. Paternity by intrauterine insemination with sperm from a man with 5alpha-reductase-2 deficiency. N Engl J Med. 1997. doi:10.1056/NEJM199704033361404 • PubMed

Khorashad BS, Aghili Z, Kreukels BPC, et al. Mental health and disorders of sex development/intersex conditions in Iranian culture: congenital adrenal hyperplasia, 5-α reductase deficiency-type 2, and complete androgen insensitivity syndrome. Arch Sex Behav. 2018. doi:10.1007/s10508-017-1139-6 • PubMed

Levy B, Teplitsky S, Kalaitzoglou E, Kahler S, Matheny JP, Saltzman AF. “Exogenous” 5 alpha reductase deficiency: a case report. Urology. 2023. doi:10.1016/j.urology.2023.05.001 • PubMed

Mannan MA, Rahman MH, Hoque MA. Male pseudohermaphroditism due to 5 alpha reductase-2 deficiency- an uncommon etiology. J Medicine. 2009. doi:10.3329/jom.v10i2.2834

Putri Susilo AF, Tjandraprawira KD, Bayu P, Bayuaji H. Disorders of sex development (DSD) 46.XY due to type 2 5-α reductase deficiency in three siblings: case report from a low-resource setting. Ann Med Surg (Lond). 2022. doi:10.1016/j.amsu.2022.104577 • PMC full text

Ruiz Martín M, Alcalá RL, Martín MA. Pseudo hermafroditismo masculino: presentación de un caso. [Journal unknown]. 1979. PDF at Universidad de la Rioja

Okon E, Livni N, Rösler A, et al. Male pseudohermaphroditism due to 5 alpha-reductase deficiency. Ultrastructure of the gonads. Arch Pathol Lab Med. 1980. PubMed

Pekkolay Z, Kiling F, Tuzcu S, Soylu H, Tuzcu A. 5-alpha reductase deficiency: a review of five cases diagnosed with ambiguous genitalia. Turk J Endocrinol Metab. 2017. doi:10.25179/tjem.2017-56481. Article page at journal

Peterson RE, Imperato-McGinley J, Gautier T, Sturla E. Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency. Am J Med. 1977. doi:10.1016/0002-9343(77)90313-8 • PubMed

Walsh PC, Madden JD, Harrod MJ, Goldstein JL, MacDonald PC, Wilson JD. Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. N Engl J Med. 1974. doi:10.1056/NEJM197410312911806 • PubMed

Clinical guidance & experience

Imperato-McGinley J. 5-alpha-reductase deficiency. Curr Ther Endocrinol Metab. 1994. PubMed

Imperato-McGinley J. 5 alpha-reductase-2 deficiency. Curr Ther Endocrinol Metab. 1997. PubMed.

Kyriakou A, Dessens A, Bryce J, et al. Current models of care for disorders of sex development – results from an international survey of specialist centres. Orphanet J Rare Dis. 2016. doi:10.1186/s13023-016-0534-8 • PubMed • PMC full text

Mendonca BB, Batista RL, Domenice S, et al. Steroid 5α-reductase 2 deficiency. J Steroid Biochem Mol Biol. 2016 Oct. doi:10.1016/j.jsbmb.2016.05.020 • PubMed

Mendonca BB, Inacio M, Costa EM, et al. Male pseudohermaphroditism due to steroid 5alpha-reductase 2 deficiency. Diagnosis, psychological evaluation, and management. Medicine (Baltimore). 1996. doi:10.1097/00005792-199603000-00003 • PubMed

Sasaki G, Ishii T, Hori N, et al. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency. Endocr J. 2019 Sep 28. doi:10.1507/endocrj.EJ19-0111 • PubMed

Clinical trials

Imperato-McGinley J. 5 alpha-metabolism in finasteride-treated subjects and male pseudohermaphrodites with inherited 5 alpha-reductase deficiency. A review. Eur Urol. 1991;20 Suppl 1. doi:10.1159/000471751 • PubMed

Imperato-McGinley J, Shackleton C, Orlic S, Stoner E. C₁₉ and C₂₁ 5 beta/5 alpha metabolite ratios in subjects treated with the 5 alpha-reductase inhibitor finasteride: comparison of male pseudohermaphrodites with inherited 5 alpha-reductase deficiency. J Clin Endocrinol Metab. 1990. doi:10.1210/jcem-70-3-777 • PubMed

Original investigations

Alswailem MM, Alzahrani OS, Alghofaili L, et al. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. Endocrine. 2019. doi:10.1007/s12020-018-1767-1 • PubMed

Mosher LJ, Godar SC, Morissette M, et al. Steroid 5α-reductase 2 deficiency leads to reduced dominance-related and impulse-control behaviors. Psychoneuroendocrinology. 2018. doi:10.1016/j.psyneuen.2018.02.007 • PubMed • PMC full text

Sobel V, Schwartz B, Zhu YS, Cordero JJ, Imperato-McGinley J. Bone mineral density in the complete androgen insensitivity and 5alpha-reductase-2 deficiency syndromes. J Clin Endocrinol Metab. 2006. doi:10.1210/jc.2005-2809 • PubMed

Psychological & cultural studies

Bajszczak K, Szarras-Czapnik M, Walczak-Jędrzejowska R, Marchlewska K, Slowikowska-Hilczer J. The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome. Endokrynologia Polska. 2020. doi:10.5603/EP.a2020.0005

Bennecke E, Thyen U, Grüters A, Lux A, Köhler, B. Health-related quality of life and psychological well-being in adults with differences/disorders of sex development. Clin Endocrinol. 2017. doi:10.1111/cen.13296 • PubMed

Boucher NA, Alkazemi MH, Tejwani R, Routh JC. Parents of children with newly diagnosed disorders of sex development identify major concerns: a qualitative study. Urology. 2022. doi:10.1016/j.urology.2022.01.001

Herdt G. Mistaken gender: 5-alpha reductase hermaphroditism and biological reductionism in sexual identity reconsidered. American Anthropologist. 1990;92(2):433-446. doi:10.1525/aa.1990.92.2.02a00110

Herdt GH, Stoller RJ. Sakulambei—a hermaphrodite’s secret: an example of clinical ethnography. The Psychoanalytic Study of Society. 1985;11:117-158. doi:10.4324/9781315791920-4

Khorashad BS, Khazai B, Roshan GM, Hiradfar M, Afkhamizadeh M, van de Grift TC. Prenatal testosterone and theory of mind development: findings from disorders of sex development. Psychoneuroendocrinology. 2018. doi:10.1016/j.psyneuen.2017.12.008 • PubMed

Moreno-Begines MLN, Arroyo-Rodríguez A, Borrallo-Riego Á, Guerra-Martín MD. Intersexuality/differences of sex development through the discourse of intersex people, their relatives, and health experts: a descriptive qualitative study. Healthcare. 2022. doi:10.3390/healthcare10040671

Perez MN, Clawson AH, Baudino MN, et al. Distress trajectories for parents of children with DSD: a growth mixture model. Journal of Pediatric Psychology. 2021. doi:10.1093/jpepsy/jsab004

Traino KA, Roberts CM, Fisher RS, et al. Stigma, intrusiveness, and distress in parents of children with a disorder/difference of sex development. J Dev Behav Pediatr. 2022. doi:10.1097/DBP.0000000000001077

Reviews & commentary

Herdt, G. Mistaken gender: 5-alpha reductase hermaphroditism and biological reductionism in sexual identity reconsidered. American Anthropologist. 1990. https://doi.org/10.1525/aa.1990.92.2.02a00110

Imperato-McGinley J, Zhu YS. Androgens and male physiology the syndrome of 5alpha-reductase-2 deficiency. Mol Cell Endocrinol. 2002 Dec 30;198(1-2):51-9. doi: 10.1016/s0303-7207(02)00368-4. PMID: 12573814.

Kang HJ, Imperato-McGinley J, Zhu YS, Rosenwaks Z. The effect of 5α-reductase-2 deficiency on human fertility. Fertil Steril. 2014. doi:10.1016/j.fertnstert.2013.11.128 • PubMed • PMC full text

Okeigwe I, Kuohung W. 5-alpha reductase deficiency: a 40-year retrospective review. Curr Opin Endocrinol Diabetes Obes. 2014. doi:10.1097/MED.0000000000000116 • PubMed

Robitaille J, Langlois VS. Consequences of steroid-5α-reductase deficiency and inhibition in vertebrates. Gen Comp Endocrinol. 2020. doi:10.1016/j.ygcen.2020.113400 • PubMed