Absence of uterus and presence of verumontanum in a 46 XX patient with Congenital adrenal hyperplasia reared as male: A case report with literature review

Abstract

Congenital adrenal hyperplasia (CAH) is an inherited disorder causing adrenal hormone imbalance and organ overgrowth, leading to phenotype-genotype mismatches. A 10-year-old phenotypic male with impalpable testes and hypospadias had ambiguous genitalia and an empty scrotum. Imaging showed intra-abdominal gonads and no uterus. Blood tests revealed low cortisol, high ACTH, and 17-OHP. Karyotyping confirmed 46 XX. CAH can virilize 46 XX individuals, sometimes resulting in male assignment. Late presentation with male identity may support gender choice for better psychological outcomes.

1 Background

Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders that results in a deficiency of enzymes needed for the synthesis of cortisol in the adrenal cortex. The most common cause of CAH is the deficiency of the enzyme 21-hydroxylase. The incidence of CAH varies among different ethnic and racial groups. Generally, the incidence of the classic form is 1 in 16,000 births. The incidence of Non-Classical Congenital Adrenal Hyperplasia (NCAH) is higher than that of the classic form, occurring at a rate of 1 in 1000. The prevalence of NCAH is more common in specific populations like Hispanics, Yugoslavs, and Ashkenazi Jews. ^,

Here, we describe a 46 XX patient with NCAH with verumontanum and an absent uterus reared as male. The cited articles were assessed for eligibility.

2 Case presentation

Patient Information. A 10-year-old phenotypic male patient presented with bilateral impalpable testes and proximal shaft hypospadias.

Clinical Findings. Physical examinations revealed an empty scrotum and ambiguous genitalia ( Fig. 1 ). His height was 140cm, and he weighed 36 kg.

Diagnostic Assessment: Blood tests showed normal complete blood count, electrolytes, renal function, and urine analysis. Ultrasound revealed an empty scrotum, absent uterus, and two intra-abdominal gonads resembling ovaries ( Fig. 1 ). MRI confirmed these findings ( Fig. 2 ). Hormonal tests showed low cortisol (25 nmol/L), elevated ACTH (130 pg/mL), androstenedione (7 ng/mL), testosterone (1.25 ng/mL), and 17OHP (>20 ng/mL). Karyotyping showed 46 XX chromosomes. X-ray indicated advanced bone age.

Diagnostic Intervention: The case was reviewed by the Multidisciplinary Team (MDT), and cystoscopy and laparoscopy were performed. Cystoscopy showed a normal urethra and verumontanum ( Fig. 3 ). Laparoscopy found two gonads resembling ovaries and no uterus ( Fig. 4 ). Left gonadectomy revealed ovarian tissue, no testicular tissue ( Fig. 5 ). Hydrocortisone treatment (20 mg/day) was started, and follow-up was scheduled. Gender and genital ambiguity management were delayed until the patient can make an informed decision.