The most common sexually transmitted infection (STI) is infection by human papillomavirus. There are more than 100 types of human papillomavirus, and over 30 of them involve the genital area. Urethral involvement is uncommon and usually limited to the distal 3 cm of the meatus. There are various treatments for urethral condylomas; as a rule, they are limited by a difficult approach, by recurren...

Forty-six cases of anorectal malformations (ARM) were seen over a period of 28 months in the elective paediatric surgical service of the two teaching hospitals in Harare, Zimbabwe, of whom 20 (43,5%) were males and 26 (56,5%) were females. Twenty-two (47,8%) of the cases had a 'high' anomaly while 21 (45m7/5) had a 'low' anomaly, and the remaining 3 cases (6,5%) had a 'cloaca' malformation. Twe...

Bladder exstrophy or as an erroneously known as ectopia vesica is a rare congenital malformation of the lower part of the abdomen and the genital area. It involves the urinary bladder, abdominal wall, pubic bones and the external genitalia. It requires functional reconstruction, which is often done as a single or in multiple stages; the aim of management is to preserve kidney functions, maintai...

BACKGROUND 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. CASE A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet...

Microdeletion 15q24 is an emerging syndrome recently described, mainly due to increased use of array-CGH. Clinical features associate mild to moderate developmental delay, typical facial characteristics (high forehead and frontal hairline, broad eyebrows, downslanting palpebral features, long philtrum), hands (particularly proximal implanted thumbs) and genital anomalies (micropenis, hypospadia...

Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a di...

Hoxa13 is expressed early in the caudal mesoderm and endoderm of the developing hindgut. The tissue-specific roles of Hoxa13 function have not been described. Hand-foot-genital syndrome, a rare dominantly inherited human malformation syndrome characterized by distal extremity and genitourinary anomalies, is caused by mutations in the HOXA13 gene. We show evidence that one specific HOXA13 mutati...

The medullary sponge kidney is also known as Lenarduzzi's kidney or Cacchi and Ricci's disease from the first Italian authors who described its main features. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. The work presente...

Mutations in the escargot (esg) locus, which codes for a zinc-finger-containing protein with similarity to the product of the snail gene, cause a variety of defects in adult structures such as loss of abdominal cuticle and malformation of the wings and legs. esg RNA is expressed in wing, haltere, leg and genital imaginal discs and in abdominal histoblast nests in the embryo. Expression in imagi...

We present two cases of acquired uterine arterial venous malformation (AVM) which was diagnosed because of massive genital bleeding successfully treated with transcatheter arterial embolization (TAE), using N-butyl-2-cyanoacrylate (NBCA) under balloon occlusion. Balloon occlusion at the uterine artery was performed in both patients for diffuse distribution of NBCA in multiple feeding branches, ...