Ambiguous genitalia

Imperato-McGinley J, Gautier T, Peterson RE, Shackleton C (1986) The prevalence of 5a-reductase deficiency in children with ambiguous genitalia in the Dominican Republic. J Urol 136 867-873... 

X-linked lissencephaly with ambiguous genitalia (XLAG) X-linked mental retardation 36 and 54 (MRX) ... 

Males with 5a-reductase deficiency also have ambiguous genitalia. If the deficiency remains undiagnosed before puberty, patients have an increase in muscle mass, voice... 

In patients with cryptorchidism or ambiguous genitalia, the identification of abdominal gonads is essential for proper diagnosis and treatment. Measurement of plasma MIS has been advocated for detecting the presence of testicular tissue. However, this test is not yet commercially... 

A newborn presents with ambiguous genitalia, having an enlarged clitoris or small phallus and labial fusion or hypoplastic scrotum. The newborn s sex can most reliably be established by... 

The dot-blot shown below examines DNA from a child with ambiguous genitalia after polymerase chain reaction (PCR) amplification and hybridization with DNA probes from the X and Y chromosome. In this case, the Y chromosome probe is from the SRY region of Yp that has recently been characterized as the male-determining region. DNA from control male and female patients is also applied to the dot-blot. Based on the dot-blot results, which is the most likely conclusion ... 

A newborn with ambiguous genitalia and a 46,XY karyotype develops vomiting, low serum sodium concentration, and high serum potassium. Which of the following proteins is most likely to be abnormal ... 

Clinical manifestations of the absence of the hormone Unknown at this time Involution of the prostate, ambiguous genitalia in newborns even though the patient is genetically a male (also referred to as pseudohermaphroditism)... 

Polymorphisms in the human CYP51A1 gene have not been reported nor have debilitating mutants been defined. However, Kelley et a/. reported a patient with Antley-Bixler syndrome and ambiguous genitalia with lanosterol accumulation and an apparent defect in P450 51A1. 

Kelley, R.I., L.E. Kratz, R.L. Glaser, M.L, Netzloff, L.M. Wolf, and E.W. Jabs (2002). Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am. J. Med. Genet. 110, 95-102. 

In this condition there is an impaired abihty to produce dihydrotestosterone (DHT), causing an increased serum ratio of testosterone DHT (Fig. 43.1). Because DHT is four times as potent as testosterone, genetic males with 5-ARD usually present as neonates with ambiguous genitalia and gender assignment is a major issue. 

The third defect in cholesterol biosynthesis to be identified was Desmosterolosis. In 1998, FitzPatrick et al. described a 46, XX female infant with multiple malformations including macrocephaly, cleft palate, ambiguous genitalia, and limb abnormalities. At autopsy, this infant was found to have markedly increased tissue levels of cholesta-5,24-dien-3j6-ol (desmosterol) [5]. To date, only one other patient with this disorder has been identified, a 2-year-old male with microcephaly, short stature, speech and psychomotor delays, and increased levels of desmosterol in plasma and cultured lymphoblasts (H. Andersson and R. Kelley, unpublished observations). Although quite different in their clinical presentations, both patients were found to have mutations in the gene encoding 3 -hydroxysteroid-A -reductase (desmosterol reductase), the enzyme that converts desmosterol to cholesterol (H. Waterham, personal communication). 

A. totalis 198 Alveolar ridges, broad 583 Ambiguous genitalia 552 Amenorrhea, primary 552 Amino aciduria 233, 362 Androgen... 

Other indications are rarer. Imaging of urethral malformation or trauma remains based on the voiding part of VCU. Patients with cloacal anomalies, ambiguous genitalia, or imperforate anus can be explored. On the other hand, the role of VCU in investigating pelvic or bladder tumors has decreased since the advent of cystoscopy and MRI. 

Microcephaly, postaxial polydactyly, ambiguous genitalia, facial dysmor-phism, 2-3 toe syndactyly, hypospadias and cryptorchism... 

Urogenital sinus is suspected during physical examination of a newborn with a normally placed anus in association with either ambiguous genitalia or a normal external genitalia, but only a single perineal opening within the vestibulum. It is either... 

In most instances 46, XX disorders with ambiguous genitalia (former female pseudohermaphroditism) result from either exposure of a female fetus to excessive androgens or sex chromosome disorders. 

XY disorder of sex development with ambiguous genitalia (former male pseudohermaphroditism) is most frequently caused by an abnormal plasma testosterone level or an abnormal testosterone response. The most common causes are disorders in androgen synthesis or action. 

Phenotypic sex differentiation is determined by hormonal products of the gonads. Anomalous hormone production during fetal development frequently results in ambiguous genitalia. 

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