Byline: Swayamsidha. Mangaraj, Arun. Choudhury, Binoy. Mohanty, Anoj. Baliarsinha
Congenital anorchia represents a rare form of testicular disorder. It classically refers to the absence of unilateral or bilateral testes in an otherwise normal genetic male. It is usually diagnosed in infancy due to the absence of testes with or without evidence of micropenis during routine health screening of the child. However, it can be identified at late stages while the person is being evaluated for delayed puberty and primary hypogonadism. Early identification and differentiation from cryptorchidism are essential from a therapeutic point of view. Apart from imaging studies, hormonal evaluation plays a crucial role in establishing the diagnosis.
Bilateral congenital anorchia is a rare condition. This is also referred to as testicular regression syndrome or vanishing testis syndrome. The condition is defined as the absence of testis in a 46, XY individual with male phenotype. The prevalence of this disorder is estimated to be 1 in 20,000 male births. The patients usually present with a normal male phenotype, but presentation of ambiguous external genitalia or microphallus has been described., Congenital anorchia has to be differentiated from bilateral cryptorchidism which is much more commonly seen in clinical practice as clinical outcome and management strategies are significantly different for these entities. Herein, we discuss the presentation of two cases of congenital anorchia with a brief review of the relevant literature.
A 28-year-old male presented for evaluation of small-sized phallus and nondevelopment of secondary sexual characteristics. On inquiry, parents gave a history of the absence of bilateral testicles from the scrotal sac since birth. There was no history of testicular trauma, torsion, mumps orchitis, inguinal surgery, head trauma, cranial irradiation, or any neurosurgical procedures. There was no history suggestive of any other pituitary hormone deficiency. The patient had received 5 monthly injections of testosterone 1 year back by consulting his primary physician. However, he had discontinued all medications for the past 12 months. Clinical evaluation showed a height of 180 cm, body mass index 22.34 kg/m 2, and presence of eunuchoid body proportions. There was the presence of a grossly hypoplastic scrotum without any testes and microphallus with a stretched penile length (SPL) of 3 cm [Figure 1]a. Ultrasonography of abdomen, pelvis, and scrotal sac failed to reveal any testis-like structures. The same was also confirmed by magnetic resonance imaging (MRI) of abdomen, pelvis, and inguinoscrotal region which could not identify any testicular remnants. Complete blood count, liver function test, renal function tests, and serum electrolytes were within normal limit. The...