Incidental diagnosis of genital tuberculosis in a prepubertal girl presenting with acute urinary retention: a case report.

A 6-year-old North Indian girl presented to the emergency department with chief complaints of hematuria for the last 5 days and urinary retention for 1 day. She had a history of falling from the roof 1 week back, which preceded her presenting symptoms. There was no history of associated cyclical abdominal pain, nausea, vomiting, diarrhea, fever, dysuria, burning micturition, altered bowel habits, or weight loss. She had no secondary sexual characteristics and had not attained menarche yet. Breast development was Tanner stage 1 with the absence of axillary and pubic hair. There was no significant medical or surgical history, including a family history of tuberculosis. The patient was conscious and oriented during the examination, and her vitals were normal. Systemic examination was also normal. An abdominal examination revealed a tense abdomen with guarding and rigidity. A pediatrician-assisted local examination of the external genitalia revealed a bulge posterior to the urethral orifice with no hymenal opening. A mass was felt anteriorly on per-rectal examination. Immediately, catheterization was done to drain 1500 ml of clear urine and relieve the presenting symptoms. Baseline investigations were within normal limits. Ultrasonography was suggestive of a urinary bladder hematoma measuring 5.8 cm × 5.4 cm. Later, Magnetic resonance imaging (MRI) showed a grossly distended vaginal canal with bulging of the vaginal sac through the introitus, likely representing IH with hematocolpos (Fig.  1 ). Bilateral ovaries were prepubertal, with no other renal or vertebral anomalies. A hymenotomy was planned to drain the hematocolpos under anesthesia after counseling and obtaining informed consent from the guardian. Fig. 1 Image shows A A T2-weighted sagittal image that shows a grossly distended and blind-ending vagina, filled with heterogeneous contents with fluid–fluid levels (suggestive of hematocolpos). An imperforate hymen (arrow) is evident. The urinary bladder (with Foley’s bulb shown by an asterisk) is displaced anteriorly, and the rectum is displaced posteriorly by the distended vaginal sac. B Coronal short tau inversion recovery image shows the grossly distended, blind-ended vaginal canal with an imperforate hymen (arrow) C An axial T2-weighted image of the pelvis shows hematocolpos (asterisk) at a fluid–fluid level. The urinary bladder (white arrow) is displaced anteriorly by the hematocolpos and rectum (yellow arrow) is displaced posteriorly Image shows A A T2-weighted sagittal image that shows a grossly distended and blind-ending vagina, filled with heterogeneous contents with fluid–fluid levels (suggestive of hematocolpos). An imperforate hymen (arrow) is evident. The urinary bladder (with Foley’s bulb shown by an asterisk) is displaced anteriorly, and the rectum is displaced posteriorly by the distended vaginal sac. B Coronal short tau inversion recovery image shows the grossly distended, blind-ended vaginal canal with an imperforate hymen (arrow) C An axial T2-weighted image of the pelvis shows hematocolpos (asterisk) at a fluid–fluid level. The urinary bladder (white arrow) is displaced anteriorly by the hematocolpos and rectum (yellow arrow) is displaced posteriorly Intra-operatively, a stab incision was made in the center of the bulge of the imperforate hymen to drain around 500 ml of foul-smelling, dark, tarry-colored blood that was sent for culture sensitivity and cartridge-based nucleic acid amplification test (CBNAAT) (Fig.  2 a–d). She was given ceftriaxone 500 mg injection intravenously twice a day and metronidazole 200 mg injection intravenously thrice a day for 2 days, and then switched to amikacin 300 mg injection intravenously once a day (as per the culture-sensitivity report) for a total of 5 days. Perineal hygiene was maintained. Her postoperative recovery was uneventful, and the patient was discharged on the third day. CBNAAT of the collected blood was positive for Mycobacterium tuberculosis complex, for which she was given antitubercular drugs for 9 months. In addition, a brain MRI was done to rule out central precocious puberty (since she was 6 years old with hematocolpos), which showed a giant cystic lesion (arachnoid cyst) in the left frontal, parietal, and temporal regions measuring 9.7 cm × 7.8 cm × 4 cm, causing mass effect (Fig.  3 ). Linear radial bands were also observed in the bilateral posterior parietal, right frontal, and left posterior temporal lobes, extending from subcortical locations to the lateral ventricles, suggesting tuberous sclerosis, for which she was registered for follow-up as per tuberous sclerosis surveillance guidelines under the care of a pediatric neurologist [ 6 ]. On follow-up visits at 6 weeks and 3 months, the patient is symptom-free and has yet to attain her menarche. A summary of the clinical presentation to follow-up is shown in Fig.  4 . Fig. 2 A Bulging imperforate hymen. B Dark tarry blood coming from the vagina after making incision on hymen. C Hymenal opening created. D Postoperative image Fig. 3 Magnetic resonance imaging of the brain with features of juxtacortical radial bands and a large left frontotemporal region arachnoid cyst. A Axial flair image of the brain shows multiple juxtacortical linear hyperintense radial bands (arrows). B T2-weighted axial image shows a large left frontotemporal region arachnoid cyst (arrow) Fig. 4 Summary of clinical presentation A Bulging imperforate hymen. B Dark tarry blood coming from the vagina after making incision on hymen. C Hymenal opening created. D Postoperative image Magnetic resonance imaging of the brain with features of juxtacortical radial bands and a large left frontotemporal region arachnoid cyst. A Axial flair image of the brain shows multiple juxtacortical linear hyperintense radial bands (arrows). B T2-weighted axial image shows a large left frontotemporal region arachnoid cyst (arrow) Summary of clinical presentation

GTB-associated hematocolpos with IH presents as a rare condition that can delay diagnosis, leading to increased reproductive morbidity. Considering this, physicians, particularly pediatricians, gynecologists, and urologists, should carefully evaluate each newborn girl. Tubercular hematocolpos should be considered in the differential diagnosis of prepubertal girls presenting with obstructive genital anomalies, particularly in TB-endemic nations. Prompt diagnosis and appropriate management, including surgical intervention and antitubercular therapy, are crucial for achieving optimal outcomes and preventing long-term sequelae.

The occurrence of GTB in prepubertal girls is exceedingly rare, with only a very limited number of cases reported in literature. The exact burden of GTB remains debatable owing to the asymptomatic, paucibacillary nature of the disease in most cases. Primary GTB is extremely uncommon, as extrapulmonary sites are almost always involved secondary to hematogenous or lymphatic spread from the lungs [ 7 ]. The most frequently affected sites are the fallopian tubes (90–100%), followed by the endometrium (50–80%), ovaries (20–30%), and cervix (5–15%)[ 8 ]. Tuberculosis of the vagina and vulva is very rare (1–2%)[ 8 ]. The diagnosis can be challenging owing to nonspecific symptoms and the low index of suspicion in this age group. Our case is unique in several ways: (1) the occurrence of GTB in prepubertal girls is a rare presentation; (2) the absence of any identifiable additional risk factors; (3) unusual clinical presentation as acute urinary retention secondary to hematocolpos; (4) the co-existence of tubercular hematocolpos and IH. Firstly, regarding the age of presentation, female GTB usually presents in the age group of 20–40 years in 80–90% of patients, with rare occurrence in adolescents and children [ 1 ]. According to previously published literature, GTB affects approximately 3% of children under 15 years of age [ 2 , 9 ]. Secondly, regarding the predisposing factors, the pediatric age group is associated with higher susceptibility to TB infection and its progression. This can be attributed to the unique social and developmental characteristics, as well as the immunological changes, that occur during puberty. Recent reports also suggest that females are at an increased risk around the time of menarche. Thakur et al . suggested a significant gender difference with higher susceptibility of young girls to TB [ 10 ]. The additional risk factors consist of malnutrition, social contact, smoking, diabetes, human immunodeficiency virus (HIV), substance misuse, or immunosuppression. Although no traditional risk factors for TB, like a known domestic contact, malnutrition, or HIV infection, were found in the patient or her family, pediatric TB is well recognized to occur in the absence of a clearly defined exposure. Children in TB endemic areas like India may become infected through unidentified community exposure, such as contact with asymptomatic or untreated individuals in schools or neighborhoods [ 11 ]. Furthermore, children are particularly vulnerable to hematogenous spread following primary infection because of an immature immune response, even if the initial lung focus is clinically silent or resolves spontaneously. Thirdly, regarding clinical presentation, most patients with GTB remain asymptomatic. When symptomatic, the clinical features in teenagers include persistent pelvic pain, dysmenorrhea, irregular menstruation (primary or secondary amenorrhea or puberty menorrhagia), adnexal masses, persistent pelvic inflammatory disease (PID), and poor overall health. Aggarwal et al . reported a case of a young, unmarried female presenting with secondary amenorrhea due to tubercular pyometra [ 8 ]. However, there is very little information available on the typical clinical features of genital TB in prepubertal girls. Behera et al . reported a tubercular pyometra in a 6-year-old girl [ 12 ]. Our case presented with acute urinary retention secondary to hematocolpos that acted as a direct cause of mechanical obstruction of the lower urinary tract, which is an uncommon presentation, and genital TB was not suspected initially. True hematocolpos, the collection of menstrual blood in the vagina, was physiologically impossible in this case because of the absence of estrogen-driven endometrial cycling. So, in this instance, the dark, tarry, foul-smelling material that was collected was probably hemorrhagic, caseous necrotic material rather than actual menstrual blood. Tubercular involvement of the vaginal or uterine mucosa may lead to the aggregation of inflammatory exudate and necrotic debris. Owing to the presence of an imperforate hymen, this material collects in the vagina along with the hemorrhage from the trauma, clinically and radiologically resembling hematocolpos. Acute urinary retention is an uncommon presentation in early childhood, and other differential diagnoses, such as mechanical obstruction (urinary tract stones, trauma to the external genitalia, urethral stricture, or imperforate hymen), neurological disorders, or urinary tract infection, should be ruled out. Jha et al . have previously reported urinary retention in a 12-year-old premenarchal girl as a primary complaint due to IH [ 13 ]. IH attributed acute urinary retention to the retained hematoma in the vagina compressing the urethra or irritating the sacral plexus [ 14 ]. Our case also had a history of trauma, leading to hematocolpos that may have altered the angle between the bladder neck and urethra owing to the mechanical effect of the hematoma in the vagina, thus aggravating the urinary outflow obstruction. Lastly, the coexistence of tubercular hematocolpos and IH is an extremely rare and unique presentation that has not been previously reported. While diagnosing IH is relatively easy with a detailed history and careful clinical examination of the external genitalia, as well as imaging, diagnosing GTB is challenging owing to its extremely rare occurrence in this age group and its asymptomatic nature. So, the clinician should keep a high index of suspicion, especially in countries with a high burden of TB. The presence of neuroimaging features suggestive of tuberous sclerosis complex (TSC), such as a large arachnoid cyst and radial migration lines, was a significant incidental finding in our patient. There is no proven link between TSC and genital tuberculosis or Müllerian anomalies, despite the fact that TSC is a multisystem genetic illness marked by hamartomatous lesions affecting the brain, skin, kidneys, heart, and lungs. The TSC diagnosis in this instance was deemed accidental with no link to the main presentation. However, early detection enables adequate surveillance and multidisciplinary care involving a pediatric neurologist to prevent long-term neurological and systemic consequences, making its diagnosis clinically significant. Although IH is benign, delayed management can cause infection, infertility, endometriosis, obstructive uropathy, or renal failure in occasional cases [ 15 ]. IH must be differentiated from other anomalies of the genitourinary tract, like vaginal or uterine septum, vaginal atresia, renal agenesis, and anorectal or vertebral malformations. Most cases are sporadic, but rare familial cases have been reported in literature. Our case was successfully managed by hymenotomy to drain the collected blood and appropriate antitubercular therapy as per the guidelines. Compared with hymenectomy (involving excision of hymenal tissue), hymenotomy (hymen-preserving surgery with a simple vertical or annular incision) is usually preferred to preserve virginity [ 16 ]. The primary goals of management for this patient were to relieve the obstruction, prevent future complications, and preserve hymenal integrity, while also considering the sociocultural context. Hymenotomy was chosen as a definitive intervention to establish a patent vaginal outflow canal, rather than as a recurring technique for removing residual material. Once a suitable hymenal opening has been established, the possibility of further retention is low, as spontaneous drainage can occur with physiological secretions or, subsequently, with the commencement of menstruation. Even in the case of delayed menarche or lack of sexual intercourse, the menstrual products are unlikely to accumulate owing to a patent hymenal opening [ 11 ]. Timely diagnosis and management help to prevent the psychological and social effects of TB in young girls, along with long-term issues, such as infertility. Thus, the key to its efficient management and future prevention of reproductive morbidity is a high index of suspicion, prompt diagnosis, and appropriate therapy.

Genital tuberculosis (GTB), a form of extrapulmonary tuberculosis, is a complex and challenging public health problem. About 80% of the patients between the ages of 20 and 40 years have it, making it more common in the reproductive age range [ 1 ]. Although less common than pulmonary tuberculosis, GTB can lead to significant health problems, including infertility, pelvic pain, menstrual irregularities in women, amenorrhea, tubo-ovarian mass, peritonitis, or, rarely, tubercular pyometra. Over one-third of such patients are asymptomatic, due to which many of them are missed and diagnosed incidentally on being evaluated for some other pathology [ 2 , 3 ]. GTB in prepubertal girls is extremely rare and poses a great diagnostic challenge. The condition is even rarer when coupled with an imperforate hymen (IH) and is seen as a unique and interesting scenario. Although isolated cases of GTB and IH have been reported in literature, the simultaneous occurrence of these two conditions is rarely reported, especially in a prepubertal girl. IH is an uncommon obstructive congenital abnormality of the female reproductive tract with an incidence of 0.05–0.1%, usually presenting during puberty with primary amenorrhea and hematocolpos or hematometra [ 4 , 5 ]. Here, we describe a peculiar case of a 6-year-old girl who presented with acute urinary retention presumed to be due to hematocolpos and was eventually diagnosed with GTB, highlighting the significance of including tuberculosis as a differential diagnosis in countries with high tuberculosis (TB) prevalence. She was successfully managed with virginity-preserving hymenotomy plus antitubercular therapy (ATT). To the best of our knowledge, this is one of the very few case reports from India, which will help clinicians consider this possibility when encountering such patients. Timely diagnosis and standardized therapy regimens can decrease morbidity and future infertility in such patients.