Rationale:
Absence of the penis, known as aphallia, is a very rare congenital anomaly. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop and is associated with the level of hormones and chromosomal rearrangements. The failure of the genital tubercle influences the development of the penis and partly depends upon testosterone secreted by Leydig cells of the testis. Chromosomal polymorphisms may affect the functions of protection and regulation, potentially leading to susceptibility to congenital diseases. Herein, an extremely rare case of a congenital absence of the penis is described.
Patient concerns:
A 3-month-old was brought to the OPD by his parents with complaints of absence of penis since birth and urine being passed rectally. When he was born, he was registered as a boy because his chromosomes were 46XY but with 9qh+. Local examination revealed the total absence of the penis. The scrotum was well developed. The testes were palpable bilaterally. The anal opening was located normally. No urethral orifice could be identified. However, his parents had not yet decided whether to accept treatment. The child has been lost to follow up.
Diagnosis:
Congenital absence of the penis (aphallia) (46 XY normal male karyotype).
Interventions:
We explained the nature of the abnormality and management options to the parents. However, it was much regretted that the patient was too young to make a decision and that his parents had not made a decision yet. They left without any further contact.
Outcome:
Because the parents left our hospital without any contact, it has not been possible to develop a follow-up plan.
Lessons:
In consideration of the rarity and devastating psychosocial consequences of this case, we accordingly call for active cooperation with doctors to minimize the negative impact of this malformation. Early assignment of gender avoids confusion and contradiction. Parental confidence solidifies the child's own confidence in his or her gender.
RationaleChondrosarcoma is a malignant mesenchymal tumor originating from cartilage. The pelvis, ribs, femur, and humerus are the most frequently affected sites, and scapula involvement is relatively rare. The aim of the present study was to report a case of chondrosarcoma in the scapula.Patient concernsA 42-year-old woman presented with a 3-month history of a painful mass in the right scapula.Diagnoses and interventionThe patient underwent tumor resection. The post-operative pathological diagnosis was scapula chondrosarcoma.OutcomesFollowing resection, the patient continued to receive routine follow-up care. There was no recurrence or tumor metastasis at a follow-up of 5 years.ConclusionsSurgery remains the primary therapy for chondrosarcoma. One of the greatest challenges in the management of chondrosarcoma is to accurately assess tumor grade before surgical intervention. Chemotherapy and radiotherapy have been applied without success. Chemo- and radioresistance have been examined beyond classic phenotypic properties to identify more efficient therapeutic strategies. Therefore, development of future novel therapies is contingent upon elucidating the molecular mechanisms of chondrosarcoma.
Rationale:
Duodenal atresia in association with situs inversus abdominus is extremely rare. Care should be taken when selecting appropriate surgical methods, and caution should be exercised during the surgery to avoid misdiagnosis and mistreatment. With prompt recognition of the condition, the surgical procedure should be performed in a timely manner to achieve positive results.
Patient concerns:
A newborn affected by situs inversus abdominus associated with duodenal atresia, midgut malrotation, and volvulus.
Diagnosis:
Congenital duodenal atresia with situs inversus abdominis.
Interventions:
Diamond-shaped duodenoduodenostomy with appendectomy was performed, with the release of Ladd band and correction of the malrotation.
Outcomes:
The baby boy is thriving well with no abdominal complaints at 4 years of surgical follow-up.
Lessons:
Although several theories are put forward to clarify this matter, the proper cause of duodenal atresia is not well defined. Clinical symptoms and examinations can assist diagnosis, the definitive cause should be ascertained by surgical approach. And the operating surgeon must be aware of the “mirror anatomy” to prevent unnecessary injuries. Additionally, long-term prognosis for duodenal atresia are very good, therefore, careful attention in postoperative management are important in such a case.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.