Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood

Abstract

Objective: There are few studies of outcome in male patients with undefined 46 XY disorder of sex development (DSD). We aimed to assess testicular function and clinical characteristics after puberty in men with idiopathic 46 XY DSD. Design: We conducted a University Hospital-based observational follow-up study. Methods: Nineteen patients with severe hypospadias associated with other signs of defective virilization, such as microphallus, cryptorchidism, and/or bifid scrotum, who were initially managed during childhood between 1988 and 1994, were evaluated at a median age of 17.6 (16.3; 17.8) years. Outcome measures included clinical findings and serum testosterone, FSH, LH, and inhibin B concentrations. Results: Testicular function was normal in only five (26%) patients. Impaired testicular function was observed in 14 (74%) patients and was partial (nZ6; 32%) or total (nZ8; 42%), requiring testosterone treatment for the initial (nZ2) or secondary (nZ6) induction of puberty. Undescended testis (unilateral nZ3, bilateral nZ2) was found and surgically managed only in the 14 patients with testicular impairment. Testosterone treatment in early childhood greatly increased penis length in all patients, but persistent microphallus following surgical treatment was observed at the end of puberty in most patients, with no difference between patients with and without testicular dysfunction (penis length of 68 (60; 75) vs 65 (60; 65) mm; PZ0.42). Half the patients presented an adult height more than 5 cm below their target height. Conclusion: Men diagnosed with idiopathic 46 XY DSD during childhood are at high risk of testicular insufficiency and persistent micropenis, and this should be taken into account during the follow-up. 165 907-915 European Journal of Endocrinology

Efficacy and Safety of Continuous Subcutaneous Infusion of Recombinant Human Gonadotropins for Congenital Micropenis during Early Infancy

“…On the other side, a partial GnRH deficiency could explain the clinical and biological results in patient 4. Finally, we acknowledge that the follow-up of these patients is necessary in order to evaluate the real benefit in the SPL and any amelioration of the psychosocial and psychosexual impact of the disease, given that in some cases micropenis may persist in puberty or adulthood even in patients treated by androgens and with normal testicular function [49]. …”

Changes Over Time in Sex Assignment for Disorders of Sex Development

“…22 If more infants with 46,XY DSD are being raised as boys and retain their testes with an expectation of normal pubertal development and optimal long-term outcome including fertility, the need for long-term detailed clinical and biochemical surveillance as well as a reevaluation of the genetic etiology will become increasingly important in these affected boys. It is also possible that there may be more cases of complex hypospadias and micropenis that may require expert input for reconstructive surgery later in life.…”

Sexual Quality of Life After Hormonal and Surgical Treatment, Including Phalloplasty, in Men with Micropenis: A Review

“…If there is an adequate volume of erectile tissue and normal androgen responsiveness, primary treatment revolves around exogenous testosterone administration or HCG treatment to increase penile length [3]. Although good responses are typically seen in early childhood [16–19], the impact on ultimate penile length remains unknown [3]. There may also be differences in pathophysiological aspects of penile development and response to treatment between patients with micropenis as an isolated condition and patients with defects in the organogenesis of the male genital system (e.g., hypospadias, cryptorchidism) [19].…”

“…Although good responses are typically seen in early childhood [16–19], the impact on ultimate penile length remains unknown [3]. There may also be differences in pathophysiological aspects of penile development and response to treatment between patients with micropenis as an isolated condition and patients with defects in the organogenesis of the male genital system (e.g., hypospadias, cryptorchidism) [19]. Moreover, it is not known whether prepubertal hormonal treatment can influence both somatic growth and pubertal penile growth, including penile shaft and skin enlargement, sufficiently to facilitate better surgical results [20].…”