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Strikingly similar abnormalities were present in two severely retarded children, an 8-year-old boy and a 12-year-old girl, who were first cousins once removed. Dysmorphic features included high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic external genitalia, and overconstriction of the shafts of all long bones. Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation prestne in both mothers: der (2), t(2;7)(p23;q36)mat. Seven additional translocation carriers were identified in four generations of this kindred.
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PMID:The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred. 98 8

A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found.
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PMID:45,XO/46,XY in a newborn with the stigmata of Turner syndrome: report of one case. 226 84

We present two children with de novo interstitial deletions of the long arm of chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3) and 46,XY, del(2)(q24.3q31.3), respectively). The first child had severe learning difficulties, growth retardation, unilateral ptosis, small palpebral fissures, a cleft uvula, and bilateral cutaneous syndactyly of the second and third toes. Despite her male karyotype, she had female external genitalia with hypoplasia of the clitoris and labia minora. This is the first reported case of feminization of the external genitalia in a genotypic male with an interstitial deletion of chromosome 2q31 and adds to the growing amount of evidence for a gene involved in sex determination in this chromosome region. The second child had severe mental and growth retardation, ptosis, down-slanting palpebral fissures, low-set ears, micrognathia, finger camptodactyly, and brachysyndactyly of the second to fifth toes. The clinical manifestations associated with deletions of 2q31 to 2q33 are similar to those found with proximal deletions at 2q24 to 2q31 and of band 2q24, suggesting that the phenotype may result from haploinsufficiency for one or more genes located at 2q31. Microsatellite marker studies showed that both children had paternally derived deletions that included the HOXD gene cluster and the EVX2, DLX1, and DLX2 genes known to be important in limb development.
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PMID:Two cases with interstitial deletions of chromosome 2 and sex reversal in one. 1044 Aug 34

Tertiary trisomy is uncommon and may arise only when one of the derivatives is small and, in the abnormal individual with karyotype 47, exists as a supernumerary derivative chromosome (+der). We describe a case of 47, XY, +der(9)t(5;9) (q33.1;q13)mat. The patient (a 1-day-old male) presented with multiple congenital anomalies including microcephaly, wide fontanelles and sutures, microphthalmia, deep-set eyes, short palpebral fissures, bulbous nose, wide nasal bridge, high arched palate, low-set and posteriorly rotated ears, micrognathia, short neck, ptosis, patient ductus arteriosus, hypoplastic external genitalia, cryptorchidism, inguinal hernia, flexion contractures of joints, short stature, clenched hands, rocker-bottom feet, simian crease, distal mottling of the skin, nail hypoplasia, hypoplasia of bones and hydrocephalus. The supernumerary derivative chromosome resulted from a meiotic recombination of a maternal balanced translocation, t(5;9) (q33.1;q13), suggesting that 3:1 disjunction in the oocyte occurred.
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PMID:Multiple congenital anomalies in association with supernumerary chromosome 47 inherited from a maternal balanced translocation. 1210 70

Few peoples of the world have completely avoided the practice of ritual mutilation, which at present appears particularly widespread in Africa. This article discusses several forms of mutilation practiced in Africa, most of which are currently rare and disappearing. Cranial deformation due to mechanical pressure in the early years of life was common in Africa and elsewhere, but its origins are difficult to trace. Collars were worn by females in some parts of Africa to elongate the neck, sometimes so weakening the skeletal structure that the head could not be held upright without the device. Many women subjected to their use died at young ages of cerebral vascular accidents. The shortening of the uvula is regarded as a benign mutilation, but could result in infection and death due to the unsanitary conditions in which it was practiced. Perforations of the nose, lips, or ears to permit use of personal adornments were common. Filing of teeth and scarring were other techniques of uncertain origin. Among genital mutilations, circumcision was the most widely known and commonly practiced. It was usually performed on boys of 7-12 years and was invested with ritual significance. Amputation of the gland by unskilled operators or later development of pseudoelephantiasis, nodules, penile fistulas, or stenosis were not rare complications. The custom of excising the clitoris and the labia minora was imported from the Near East and spread west and south with the penetration of Islam. It is still carried out at puberty. Although life-threatening complications are rare, local sequelae including urinary problems, vaginal obstruction, and scleroses leading to vesicovaginal fistulas during childbirth are common. The motive appears to be to prove the subordination of women and the prohibition of all sexual pleasure. Infibulation involves excision of the external genitalia and the creation of an orifice the size of a pencil to allow escape of menstrual fluid and urine. The operation is performed on little girls of 7 or 8. The husband creates a small opening at the time of marriage, and the woman is cut open and sewn up at each delivery. The complications are variable and may include local infection, hemorrhage, anemia, clitoral cysts, cystitis and acute urinary retention, vesical lithiasis, and psychic problems. Disinfibulation is complicated by sectioning of the anal sphincter, bladder damage, and uterine prolapse. The custom is only seen among Islamic peoples.
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PMID:[Problems related to African customs and ritual mutilations]. 1231 26

A thorough insight into the female genital anatomy is crucial for understanding and performing pelvic reconstructive procedures. The intimate relationship between the genitalia and the muscles, ligaments, and fascia that provide support is complex, but critical to restore during surgery for correction of prolapse or aesthetic reasons. The external female genitalia include the mons pubis, labia majora and minora, clitoris, vestibule with glands, perineal body, and the muscles and fascia surrounding these structures. Through the perineal membrane and the perineal body, these superficial vulvar structures are structurally related to the deep pelvic muscle levator ani with its fascia. The levator ani forms the pelvic floor with the coccygeus muscle and provides vital support to all the pelvic organs and stability to the perineum. The internal female genital organs include the vagina, cervix, uterus, tubes, and ovaries with their visceral fascia. The visceral fascia also called the endopelvic fascia, surrounds the pelvic organs and connects them to the pelvic walls. It is continuous with the paraurethral and paravaginal fascia, which is attached to the perineal membrane. Thus, the internal and external genitalia are closely related to the muscles and fascia, and work as one functioning unit.
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PMID:Normal vulvovaginal, perineal, and pelvic anatomy with reconstructive considerations. 2254 69

Pelvic organ prolapse, a herniation of pelvic organs through the vagina, is a common condition in older women. Pelvic organ prolapse distorts vaginal anatomy making pelvic examination difficult. A clinician must accurately identify anatomic landmarks both in women presenting with symptoms of prolapse and in women noted to have coincidental prolapse during routine gynecologic examination. We present a systematic approach to the female pelvic examination including anatomic landmarks of the external genitalia, vagina, and uterus in women with normal support as well as changes that occur with pelvic organ prolapse. Knowledge and awareness of normal anatomic landmarks will improve a clinician's ability to identify defects in pelvic support and allow for better diagnosis and treatment of pelvic organ prolapse.
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PMID:Physical examination of the female internal and external genitalia with and without pelvic organ prolapse: A review. 2525 76

Gonadal sex determination is a complex genetic process by which an embryonic primordium is driven to form an ovary or a testis, which requires a delicate dosage balance involving many genes. Disruption in this molecular pathway can lead to differences of sex development (DSD). Although some genetic mechanisms leading to 46,XY DSD have been elucidated, little is known about copy-number variation (CNV) causing testicular or ovotesticular 46,XX DSD. We describe a 20-year natural history of a man with SRY-negative 46,XX who was born with atypical male external genitalia, aortic coarctation, and bilateral blepharophimosis-ptosis. The molecular study identified a de novo heterozygous 3-Mb 15q26.2 deletion, a gene-poor locus containing NR2F2, which encodes the nuclear receptor COUP-TFII that is highly expressed in ovary and cardiac arteries. Immunohistochemistry confirmed the low COUP-TFII expression on his ovotestis tissue. Monosomy of 15q26.2, encompassing the NR2F2 gene, may act as a Z-factor regulating the male sex determination negatively. This finding supports a novel type of CNV resulting in DSD in an individual who developed male puberty spontaneously.
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PMID:The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene. 3217 18