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Aphallia: Report of Three Cases and Literature Review

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Aphallia: Report of Three Cases and Literature Review Int J Reprod BioMed Vol. 14. No. 4. pp: 279-284, April 2016 Case report Aphallia: Report of three cases and literature review 1 2 2 Fereshteh Talebpour AmiriP P Ph.D., Davood Nasiry Zarrin GhabaeeP P M.Sc., Ramezan Ali NaeimiP P 3 4 M.Sc., Seyed Javad SeyediP P M.D., Seyed Abdollah MousaviP P M.D. 1. Department of Anatomy, Faculty Abstract of Medicine, Mazandaran University of Medical Sciences, Background: Aphallia or penile agenesis is a rare malformation accompanying with Sari, Iran. no phallus. This anomaly is extremely rare with abnormality of urogenital system 2. Student Research Committee, and psychological consequences. Its outbreak is estimated 1 out of 10-30 million Mazandaran University of births. Medical Sciences, Sari, Iran. 3. Shahid Beheshti University, Case: Reviewing 3 cases of male external genitalia agenesis, which associated with Tehran, Iran. multiple anomalies of musculoskeletal, cardiovascular and genitourinary system. 4. Department of Surgery, Faculty Conclusion: Aphallia has psychosocial consequences and a guarded prognosis. This of Medicine, Antibacterial study showed that if the kidney failure is due to its obstruction, these patients will be Resistance Research Center, Mazandaran University of born in more favorable conditions and the future treatment measures will be directed Medical Sciences, Sari, Iran. to keep the external genitalia (male) through timely diagnosis and prenatal surgery and timely bladder drainage. Corresponding Author: Seyed Abdollah Mosuavi, Boali Sina Hospital,11T Sari, Iran. Email: [email protected] Tel: (+98) 9111521251 Received: 9 November 2015 Revised: 13 February 2015 Key words: Aphallia, Development of phallus, Associated anomalies. Accepted: 20 February 2015 Introduction Case report phallia or complete penis agenesis is Case 1 a very infrequent congenital A baby was born weighing 2 kg with 45 cm abnormality with dramatic height at week 31 due to amnion getting torn A 59T 59T psychological consequences (1). Its via caesarean section (CSC) from a 31-year- prevalence is estimated one per 10-30 million old mother with no prior sonography before births (259T -5).59T The reason behind it is genital birth as her second delivery. Her first baby tubercle development. This anomaly has often was a healthy girl. She had a previous record been reported with abnormalities like Kidney of unknown abortion and during recent agenesis or cystic kidney, horseshoe kidney, pregnancy, she took progesterone vaginal urinary reflux, prostate agenesis, skeletal and suppositories to avoid abortion recurrence. neural disorders, annular pancreas, clubfoot There was no parental family relation, no pointed congenital anomaly in their family and heart problems (659T ,59T 759T )59T . Since the digestive system and urinary history and not taking any other drugs. tract caudal embryonic origin are of cloaca No phallus has been seen in baby via segment, recto urethral fistula is seen in clinical examination. Scrotum wrinkle and testicular descent was revealed normal and majority of these patients. The majority of Male gender was verified by karyotyping such patients have 46XY Karyotype. Because (Figure 1). Examining perineum, anterior skin of phallus not being formed despite male tag to anus was observed. Anus was in genotype, many of these people suffer from normal position. Urinary opening wasn’t seen numerous psychological complications. Herein in perineum. Urine was mixed with meconium we report three cases of Aphallia along with a discharged into dentate line proximity via review of literature. urinary endoscopic examination. Examining A signed informed consent was obtained hip, there was limitation in hip abduction. from parents of all patients who participated in Echocardiography and ultrasonography of the study. brain were normal. Talebpour Amiri et al In abdominal and pelvis ultrasonography, dilatation. In rectum-injected contrast media severe hydronephrosis and significant cystogram, left vesicoureteral reflux was diminished left renal cortical thickness along observed and urethro- rectal fistula was with tough dilation and cystic pelvis were verified. Cystostomy was done the day after spotted (Figure 1). Mild to average birth. hydronephrosis was seen in the right kidney The patient was discharged for penis with mild reduced cortical thickness and pelvis reconstruction treatment plan. Figure 1. Aphallia with Skin tag Figure 2. Cystogram represents a Uretrorectal fistula Case 2 normal with normal meconium excretion. In A premature neonate (gestational age 32- the lower limbs, two sided clubfoot was week) weighing 1800 gr with no penis was observed (Figure 3). born from a 27 yrs old mother with no special Echocardiography reported mild tricuspid disease and a healthy boy. The parents were heart insufficiency and small openness of healthy with no family relation. No drug was patent ducts arteriosus. In abdominal taken during gestation and no certain sonography, massive bladder with increased chemical proximity was noted. The mother thick wall has been seen. The kidneys were had once unknown induced abortion history. severely atrophic with several cysts The only mentioned point in pregnancy period (multicystic bladder). In cystography, the sonography has been Oligopolyhydramnios. contrast media reflux into urachus and The baby's Karyotyping was XY. bilateral ureter was observed. Urethra was Examination revealed his respiratory distress. short leading to distal rectum but no obvious Checking his head and neck, the ears were opening was spotted (Figure 4). located lower than their normal position and Due to no urination, the patients saddle nose was observed. There were underwent cystostomy. During the operation, featured chest, distended belly and higher biopsy was taken from gonads, which located navel and the liver was touched 3 cm reported normal testes. 2nd day after birth, below the ribs. Via examining genitals, phallus blood urea, creatinine and potassium has not been seen. Scrotum was normal and increased and on the 25th postnatal day, the contained gonad with normal dimensions and baby died because of clinical signs of renal consistency. Sacrum was short but anus was failure. Figure 3. Aphallia with Abdominal distention, Position the Figure 4. Cystogram showed severe dilation of the bladder top navel and clubfoot and ureter bilateral reflux and rectal fistula. 280 International Journal of Reproductive BioMedicine Vol. 14. No. 4. pp: 279-284, April 2016 Aphallia and associated anomaly Case 3 Cardiography reported mild tricuspid valve A neonate (2 kg weight and 44 cm height) failure. Ultrasonography of brain was normal. was born in the 37th week of pregnancy via Kidneys and bladder sonography reported no caesarean section as one of the twins that the pathological problem. Urination was seen from other one had no problems. There was no a small urethra below and anal verge anterior family history between the parents. The and was catheterized. Cystogram showed mother was 39 years old who took 100 mg mild left side reflux. Since the parents didn’t aspirin daily for 8 months. Examination agree with the subsequent follow-up, the baby revealed aphallia accompanied with bifid was discharged because of his parents' scrotum containing gonad (Figure 5). consent. Figure 5. Aphallia with bifid scrotum. Discussion Aphallia with anal stenosis, phallus tetralogy, and multi spinal disorders such as sacrum Aphallia or agenesis phallus is a congenital agenesis and central nervous system (CNS) disorder that had been reported fewer than (11). In our patients, renal hydronephrosis, 100 cases until 2010 worldwide (1, 8). This multicystic kidney and short sacrum have anomaly occurs within 4 wks of embryonic been reported, too. Newly born babies with development accompanying other anomalies Aphallia have Karyotype XY46. SRY gene is (1, 9). The reason behind it is associated with the sex determining transcription factor on Y no genital tubercle formation or its chromosome. This gene expression leads to development impairment (6, 7). Genital gonad development as male gender and Anti- tubercle, embryonic progenitor mesenchymal Mullerian Hormone is secreted from tissue in man and clitoris in woman, is formed developing testicle's Sertoli cells so that through tissue budding mesenchymal tissue internal and external genital system is inclined underneath genital ectoderm next to cloacal to male gender (10). membrane where mesenchymal reproduction In addition to SRY gene, external genital impairment results in Aphallia (6, 7). The system develops as cauda from septum anterior and cranial mesoderm (cephalic whose development basically depends on segment) from urogenital sinus plays its role androgen (testosterone) and similar to other by expressing Bone Morphogenetic Protein 4 septum organs, epithelial-mesenchymal (BMP4) Factor in genital tubercle formation interaction plays the key role in their and ultimately phallus formation. Congenital development (12). In 2011, Wang introduced anomalies accompany wide defects in a case of Aphallia with 46 XY chromosome blastogenesis under this certain time limit Karyotype, where PCR test revealed no (10). azoospermia factor or SRY gene (5). Gerard-Blanluet reported Aphallia with Urorectal Septum Malformation Sequence several mesodermal impairments in 2011. (URSMS) is a rare syndrome whose This baby was born with closed anus, pathogenic mechanism lies in its defect dysplasia of both kidneys, complete right lung related to urorectal septum and cloacal agenesis and rib segmental disorder
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