genitalia

Summary

Summary: The external and internal organs involved in the functions of REPRODUCTION.

Top Publications

  1. Aspiras A, Smith F, Angelini D. Sex-specific gene interactions in the patterning of insect genitalia. Dev Biol. 2011;360:369-80 pubmed publisher
    b>Genitalia play an important role in the life histories of insects, as in other animals. These sexually dimorphic structures evolve rapidly and derive from multiple body segments...
  2. Naiche L, Arora R, Kania A, Lewandoski M, Papaioannou V. Identity and fate of Tbx4-expressing cells reveal developmental cell fate decisions in the allantois, limb, and external genitalia. Dev Dyn. 2011;240:2290-300 pubmed publisher
    ..expression and lineage reveal that various distinct appendages, such as the allantois, hindlimb, and external genitalia, all arise from a single mesenchymal expression domain...
  3. Sajjad Y. Development of the genital ducts and external genitalia in the early human embryo. J Obstet Gynaecol Res. 2010;36:929-37 pubmed publisher
    ..Normal differentiation of the bipotential external genitalia and reproductive ducts are dependent upon the presence or absence of certain hormones...
  4. Rodríguez R, Al Wathiqui N. Genotype × environment interaction is weaker in genitalia than in mating signals and body traits in Enchenopa treehoppers (Hemiptera: Membracidae). Genetica. 2011;139:871-84 pubmed publisher
    ..types expected to differ in canalization and condition-dependence: mating signals, body size-related traits, and genitalia. Because genitalia are expected to show the least condition-dependence and the most canalization, they should ..
  5. Sahakitrungruang T, Huang N, Tee M, Agrawal V, Russell W, Crock P, et al. Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients. J Clin Endocrinol Metab. 2009;94:4992-5000 pubmed publisher
    ..P450 oxidoreductase (POR) deficiency causes disordered steroidogenesis; severe mutations cause genital ambiguity in both sexes plus the Antley-Bixler skeletal malformation syndrome, whereas mild mutations can cause adult infertility...
  6. Sanders C, Carter B, Goodacre L. Parents' narratives about their experiences of their child's reconstructive genital surgeries for ambiguous genitalia. J Clin Nurs. 2008;17:3187-95 pubmed
    The aim of this study was to initiate an exploration of parents' understanding and experiences of their child's reconstructive genital surgeries for ambiguous genitalia.
  7. Lin C, Yin Y, Long F, Ma L. Tissue-specific requirements of beta-catenin in external genitalia development. Development. 2008;135:2815-25 pubmed publisher
    External genitalia are body appendages specialized for internal fertilization. Their development can be divided into two phases, an early androgen-independent phase and a late androgen-dependent sexual differentiation phase...
  8. Sathyanarayana S, Beard L, Zhou C, Grady R. Measurement and correlates of ano-genital distance in healthy, newborn infants. Int J Androl. 2010;33:317-23 pubmed publisher
    ..We confirmed previous findings that AGD is a sexually dimorphic measurement that is most strongly predicted by infant weight. The application of this measurement to clinically relevant outcomes remains to be explored in further depth...
  9. Vidal I, Gorduza D, Haraux E, Gay C, Chatelain P, Nicolino M, et al. Surgical options in disorders of sex development (dsd) with ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010;24:311-24 pubmed publisher
    ..e., genes, hormones and target tissues); (2) the outside sex (i.e., anatomy of genitalia including size of the genital tubercle, mullerian cavity and potential adult height of the patient); (3) the ..

More Information

Publications85

  1. Al Mulhim A, Kamal H. Ambiguous genitalia in neonates: a 4-year prospective study in a localized area. East Mediterr Health J. 2010;16:214-7 pubmed
    This study aimed to determine the possible etiology ot ambiguous genitalia in 41 newborn intants at a referral hospital in Hofuf city, Saudi Arabia...
  2. Hsieh M, Breyer B, Eisenberg M, Baskin L. Associations among hypospadias, cryptorchidism, anogenital distance, and endocrine disruption. Curr Urol Rep. 2008;9:137-42 pubmed
    ..Hence, human hypospadias and cryptorchidism may be associated with reduced anogenital distance as a result of endocrine disruption...
  3. Idkowiak J, O Riordan S, Reisch N, Malunowicz E, Collins F, Kerstens M, et al. Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab. 2011;96:E453-62 pubmed publisher
    ..P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency...
  4. Seifert A, Yamaguchi T, Cohn M. Functional and phylogenetic analysis shows that Fgf8 is a marker of genital induction in mammals but is not required for external genital development. Development. 2009;136:2643-51 pubmed publisher
    In mammalian embryos, male and female external genitalia develop from the genital tubercle. Outgrowth of the genital tubercle is maintained by the urethral epithelium, and it has been reported that Fgf8 mediates this activity...
  5. Kuntner M, Coddington J, Schneider J. Intersexual arms race? Genital coevolution in nephilid spiders (Araneae, Nephilidae). Evolution. 2009;63:1451-63 pubmed publisher
    ..male monogamy) via opportunistic mating, pre- and postcopulatory mate guarding, and/or plugging of female genitalia to exclude subsequent suitors...
  6. Eberhard W. Evolution of genitalia: theories, evidence, and new directions. Genetica. 2010;138:5-18 pubmed publisher
    Many hypotheses have been proposed to explain why male intromittent genitalia consistently tend to diverge more rapidly than other body traits of the same individuals in a wide range of animal taxa...
  7. Huber B. Mating positions and the evolution of asymmetric insect genitalia. Genetica. 2010;138:19-25 pubmed publisher
    ..Others require in-depth analyses of the function of asymmetric genital structures, targeted comparative analyses (e.g., of taxa with sex-role reversal, taxa with reversal to symmetry, etc.), and of female genital neuroanatomy...
  8. Houk C, Lee P. Consensus statement on terminology and management: disorders of sex development. Sex Dev. 2008;2:172-80 pubmed publisher
    ..Also, blatantly lacking are adequate data concerning the impact of prenatal androgen on the fetal central nervous system regarding subsequent development of gender and sexual issues...
  9. Gilchrist J, Moore M, Andres A, Estroff J, Badger T. Ultrasonographic patterns of reproductive organs in infants fed soy formula: comparisons to infants fed breast milk and milk formula. J Pediatr. 2010;156:215-20 pubmed publisher
    ..To determine if differences exist in hormone-sensitive organ size between infants who were fed soy formula (SF), milk formula (MF), or breast milk (BF)...
  10. Uhl G, Nessler S, Schneider J. Securing paternity in spiders? A review on occurrence and effects of mating plugs and male genital mutilation. Genetica. 2010;138:75-104 pubmed publisher
    ..In order to understand plug evolution and function we need to explore the morphological, behavioural and biochemical aspects involved and extend our approach to interactions between the sexes...
  11. Seifert A, Bouldin C, Choi K, Harfe B, Cohn M. Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development. Development. 2009;136:3949-57 pubmed publisher
    Malformations of the external genitalia are among the most common congenital anomalies in humans. The urogenital and anorectal sinuses develop from the embryonic cloaca, and the penis and clitoris develop from the genital tubercle...
  12. Nishida H, Miyagawa S, Matsumaru D, Wada Y, Satoh Y, Ogino Y, et al. Gene expression analyses on embryonic external genitalia: identification of regulatory genes possibly involved in masculinization processes. Congenit Anom (Kyoto). 2008;48:63-7 pubmed publisher
    ..The genital tubercle (GT), an anlage of the external genitalia, differentiates into a penis in males and a clitoris in females...
  13. Seifert A, Zheng Z, Ormerod B, Cohn M. Sonic hedgehog controls growth of external genitalia by regulating cell cycle kinetics. Nat Commun. 2010;1:23 pubmed publisher
    ..In this study, we show that inactivation of Shh in external genitalia extends the cell cycle from 8.5 to 14.4?h, and genital growth is reduced by ?75%...
  14. Cohn M. Development of the external genitalia: conserved and divergent mechanisms of appendage patterning. Dev Dyn. 2011;240:1108-15 pubmed publisher
    ..Male and female external genitalia develop from the genital tubercle...
  15. Cayetano L, Maklakov A, Brooks R, Bonduriansky R. Evolution of male and female genitalia following release from sexual selection. Evolution. 2011;65:2171-83 pubmed publisher
    Despite the key functions of the genitalia in sexual interactions and fertilization, the role of sexual selection and conflict in shaping genital traits remains poorly understood...
  16. Wojcieszek J, Simmons L. Evidence for stabilizing selection and slow divergent evolution of male genitalia in a millipede (Antichiropus variabilis). Evolution. 2012;66:1138-53 pubmed publisher
    ..The mode of selection operating upon genitalia can be explored by comparing patterns of population divergence in genetic and genitalic traits...
  17. Breuer O, Abdulhadi Atwan M, Zeligson S, Fridman H, Renbaum P, Levy Lahad E, et al. A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia. Eur J Endocrinol. 2012;167:209-16 pubmed publisher
    ..Kisspeptin 1 receptor (KISS1R) gene mutations are rare but have recently become an important etiology of normosmic isolated hypogonadotropic hypogonadism (IHH)...
  18. Ching S, Cunha G, Baskin L, Basson M, Klein O. Coordinated activity of Spry1 and Spry2 is required for normal development of the external genitalia. Dev Biol. 2014;386:1-11 pubmed publisher
    Development of the mammalian external genitalia is controlled by a network of signaling molecules and transcription factors...
  19. Huber B, Sinclair B, Schmitt M. The evolution of asymmetric genitalia in spiders and insects. Biol Rev Camb Philos Soc. 2007;82:647-98 pubmed
    ..One character system that is particularly promising in this respect is animal genitalia because (1) asymmetries in genitalia have evolved many times convergently, and (2) the taxonomic literature ..
  20. Mark K, Wald A, Magaret A, Selke S, Olin L, Huang M, et al. Rapidly cleared episodes of herpes simplex virus reactivation in immunocompetent adults. J Infect Dis. 2008;198:1141-9 pubmed publisher
    ..Recent in situ data show the localization of HSV-specific CD8(+) T cells at the dermal epidermal junction next to peripheral sensory nerve endings, suggesting that viral reactivation may occur more frequently than previously appreciated...
  21. Miyagawa S, Moon A, Haraguchi R, Inoue C, Harada M, Nakahara C, et al. Dosage-dependent hedgehog signals integrated with Wnt/beta-catenin signaling regulate external genitalia formation as an appendicular program. Development. 2009;136:3969-78 pubmed publisher
    Embryonic appendicular structures, such as the limb buds and the developing external genitalia, are suitable models with which to analyze the reciprocal interactions of growth factors in the regulation of outgrowth...
  22. Chavhan G, Parra D, Oudjhane K, Miller S, Babyn P, Pippi Salle F. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics. 2008;28:1891-904 pubmed publisher
    ..complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia. Early and appropriate gender assignment is necessary for healthy physical and psychologic development of ..
  23. Miyagawa S, Satoh Y, Haraguchi R, Suzuki K, Iguchi T, Taketo M, et al. Genetic interactions of the androgen and Wnt/beta-catenin pathways for the masculinization of external genitalia. Mol Endocrinol. 2009;23:871-80 pubmed publisher
    ..the sexually dimorphic development of embryos is typically achieved by the differentiation of the external genitalia. Hence, the sexual distinction of mammalian newborns is based on the external genital structure...
  24. Ahmed S, Rodie M. Investigation and initial management of ambiguous genitalia. Best Pract Res Clin Endocrinol Metab. 2010;24:197-218 pubmed publisher
    Infants rarely present with truly ambiguous genitalia and such children should be evaluated by experts who work within a multidisciplinary team that is dedicated for evaluation and management of children and adults with suspected and ..
  25. Eberhard W. Experiments with genitalia: a commentary. Trends Ecol Evol. 2011;26:17-21 pubmed publisher
    There has been a recent burst of studies of the function of genitalia, many of which share several important shortcomings...
  26. Dias F, Casagrande M, Mielke O. Alternative techniques to study characters of the genitalia in Lepidoptera. Neotrop Entomol. 2010;39:1044-5 pubmed
    The present note aims to describe two alternative methods for observing genitalia in Lepidoptera...
  27. Mazahery A, Suzuki K, Nagafuchi A, Miyajima M, Nakagata N, Orvis G, et al. Functional analysis of ectodermal ?-catenin during external genitalia formation. Congenit Anom (Kyoto). 2013;53:34-41 pubmed publisher
    ..catenin during the development of the mouse genital tubercle, a mammalian anlage of the external genitalia. For this purpose, the conditional loss of function mouse mutant Wnt7a-Cre;?-cat(f/f) was utilized...
  28. Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A large analphoid invdup(3)(q22.3qter) marker chromosome characterized by array-CGH in a child with malformations, mental retardation, ambiguous genitalia and Blaschko's lines. Eur J Med Genet. 2007;50:264-73 pubmed
    ..in fibroblasts but not in lymphocytes, found in a child with malformations, mental retardation and ambiguous genitalia. Cytogenetic and molecular analysis showed that the supernumerary invdup(3)(q22...
  29. Martin Ezquerra G, Sánchez Regaña M, Herrera Acosta E, Umbert Millet P. Topical tacrolimus for the treatment of psoriasis on the face, genitalia, intertriginous areas and corporal plaques. J Drugs Dermatol. 2006;5:334-6 pubmed
    ..Topically, it seems only useful in thin psoriasis plaques located on the face, genitalia, and intertriginous areas. We present an open-label clinical trial to test the efficacy of 0...
  30. Ahmed S, Morrison S, Hughes I. Intersex and gender assignment; the third way?. Arch Dis Child. 2004;89:847-50 pubmed
    ..It is no wonder that the birth of a child with complex genital anomalies where the sex of rearing is uncertain at birth, presents difficult clinical and ethical issues. ..
  31. Ogilvy Stuart A, Brain C. Early assessment of ambiguous genitalia. Arch Dis Child. 2004;89:401-7 pubmed
  32. Gupta R, Wald A, Krantz E, Selke S, Warren T, Vargas Cortes M, et al. Valacyclovir and acyclovir for suppression of shedding of herpes simplex virus in the genital tract. J Infect Dis. 2004;190:1374-81 pubmed
    ..Although the suppression of viral replication is not complete, valacyclovir and acyclovir are highly effective in suppressing the frequency and quantity of genital HSV shedding. ..
  33. Ramachandran V, McGeoch P. Occurrence of phantom genitalia after gender reassignment surgery. Med Hypotheses. 2007;69:1001-3 pubmed
    ..We would emphasise here that transsexuality should not be regarded as "abnormal" but instead as part of the spectrum of human behaviour. ..
  34. Shackleton C, Marcos J, Arlt W, Hauffa B. Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. Am J Med Genet A. 2004;129A:105-12 pubmed
    ..The male baby born of this pregnancy had normal genitalia but showed a urinary steroid profile indicating partial deficiencies of P450c17 and P450c21...
  35. Kelley R, Kratz L, Glaser R, Netzloff M, Wolf L, Jabs E. Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. Am J Med Genet. 2002;110:95-102 pubmed
    ..fusion of the calvarial sutures, severe midface hypoplasia, proptosis, choanal atresia, and, in some, ambiguous genitalia. Of fewer than 40 patients described to date, most have been sporadic, although reports of parental ..
  36. Gonzalez R, Piaggio L. Ambiguous genitalia. Curr Opin Urol. 2006;16:273-6 pubmed
    ..Rather than abandoning the efforts to repair this malformation early, we favor the continued development of more refined surgical techniques that may yield better results in the future. ..
  37. Minto C, Liao L, Woodhouse C, Ransley P, Creighton S. The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. Lancet. 2003;361:1252-7 pubmed
    ..For infants with intersex conditions and ambiguous genitalia being raised female, this surgery is often undertaken in early childhood...
  38. Brown J, Warne G. Practical management of the intersex infant. J Pediatr Endocrinol Metab. 2005;18:3-23 pubmed
    Intersex occurs when the appearance of the internal or external genitalia is at variance with normal development for either sex...
  39. Hartshorne T, Hefner M, Davenport S. Behavior in CHARGE syndrome: introduction to the special topic. Am J Med Genet A. 2005;133A:228-31 pubmed
    ..And, finally, all papers point to behavior as communication, especially within relationships, where it is essential for maximizing intellectual and social outcomes...
  40. Suzuki K, Bachiller D, Chen Y, Kamikawa M, Ogi H, Haraguchi R, et al. Regulation of outgrowth and apoptosis for the terminal appendage: external genitalia development by concerted actions of BMP signaling [corrected]. Development. 2003;130:6209-20 pubmed
    Extra-corporal fertilization depends on the formation of copulatory organs: the external genitalia. Coordinated growth and differentiation of the genital tubercle (GT), an embryonic anlage of external genitalia, generates a ..
  41. van Dijk J, de Kort A. Reducing challenging behaviors and fostering efficient learning of children with CHARGE syndrome. Am J Med Genet A. 2005;133A:273-7 pubmed
  42. Cragun D, Trumpy S, Shackleton C, Kelley R, Leslie N, Mulrooney N, et al. Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. Am J Med Genet A. 2004;129A:1-7 pubmed
    ..The brother had ambiguous genitalia and increased serum levels of progesterone and 17-alpha-hydroxyprogesterone...
  43. Foronda D, Estrada B, de Navas L, Sánchez Herrero E. Requirement of Abdominal-A and Abdominal-B in the developing genitalia of Drosophila breaks the posterior downregulation rule. Development. 2006;133:117-27 pubmed
    The genitalia of Drosophila derive from the genital disc and require the activity of the Abdominal-B (Abd-B) Hox gene. This gene encodes two different proteins, Abd-B M and Abd-B R...
  44. Chen E, Christiansen A, Baker B. Allocation and specification of the genital disc precursor cells in Drosophila. Dev Biol. 2005;281:270-85 pubmed
    ..originate from the embryonic tail segments A8, A9, and A10, respectively, and produce the sexually dimorphic genitalia and analia...
  45. Huang N, Pandey A, Agrawal V, Reardon W, Lapunzina P, Mowat D, et al. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005;76:729-49 pubmed
    ..Por gene ablation causes embryonic lethality, POR missense mutations cause disordered steroidogenesis, ambiguous genitalia, and Antley-Bixler syndrome (ABS), which has also been attributed to fibroblast growth factor receptor 2 (FGFR2) ..
  46. Issekutz K, Graham J, Prasad C, Smith I, Blake K. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A. 2005;133A:309-17 pubmed
  47. Smith I, Nichols S, Issekutz K, Blake K. Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data. Am J Med Genet A. 2005;133A:248-56 pubmed
    ..Results are discussed with reference to the challenges inherent in the diagnosis of autism in individuals with sensory impairments, and to the implications for understanding the etiology of CHARGE syndrome and of ASD...
  48. Ocal G, Adiyaman P, Berberoglu M, Cetinkaya E, Akar N, Uysal A, et al. Mutations of the 5alpha-steroid reductase type 2 gene in six Turkish patients from unrelated families and a large pedigree of an isolated Turkish village. J Pediatr Endocrinol Metab. 2002;15:411-21 pubmed
    ..Homozygous asymptomatic female carriers must be taken into consideration in this clinical entity, especially in a closed population, because of the risk of transmitting the disease to their offspring. ..
  49. Doyle C, Blake K. Scoliosis in CHARGE: a prospective survey and two case reports. Am J Med Genet A. 2005;133A:340-3 pubmed
  50. Thelin J, Fussner J. Factors related to the development of communication in CHARGE syndrome. Am J Med Genet A. 2005;133A:282-90 pubmed
    ..Other factors that may be related to the development of symbolic language are also discussed...
  51. Houk C, Dayner J, Lee P. Genital ambiguity with a Y chromosome: does gender assignment matter?. J Pediatr Endocrinol Metab. 2004;17:825-39 pubmed
  52. Reiner W. Gender identity and sex-of-rearing in children with disorders of sexual differentiation. J Pediatr Endocrinol Metab. 2005;18:549-53 pubmed
    ..To compare declared sexual identity to sex-of-rearing in individuals with disorders of sexual differentiation...
  53. Raju R, Goldblum J, Hart W. Pagetoid squamous cell carcinoma in situ (pagetoid Bowen's disease) of the external genitalia. Int J Gynecol Pathol. 2003;22:127-35 pubmed
    ..This growth pattern may simulate extramammary Paget's disease (EPD) when the external genitalia are involved. We report two cases of genital pagetoid SCCIS, including the first example affecting the vulva...
  54. Burke A, Rosa Molinar E. Starting from fins: parallelism in the evolution of limbs and genitalia. The fin-to-limb transition. Evol Dev. 2002;4:375-7 pubmed
    ..focused on three presentations made at the Starting from Fins: Parallelism in the Evolution of Limbs and Genitalia symposium held as part of the 2001 Chicago meeting of the Society of Integrative and Comparative Biology...
  55. Ammini A, Gupta R, Kapoor A, Karak A, Kriplani A, Gupta D, et al. Etiology, clinical profile, gender identity and long-term follow up of patients with ambiguous genitalia in India. J Pediatr Endocrinol Metab. 2002;15:423-30 pubmed
    There is little information on the profile of children with ambiguous genitalia in India. Presented here is an analysis of patients with ambiguous genitalia registered in a general endocrine clinic during the last 2 decades...
  56. Blake K, Salem Hartshorne N, Daoud M, Gradstein J. Adolescent and adult issues in CHARGE syndrome. Clin Pediatr (Phila). 2005;44:151-9 pubmed
    ..The resulting body of information provides important insights into the prognosis and special needs of individuals with CHARGE, as well as further research questions...
  57. Ellaithi M, Gisselsson D, Nilsson T, Abd El Fatah S, Ali T, Elagib A, et al. A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia. BMC Pediatr. 2006;6:11 pubmed
    ..gene responsible of gonadal differentiation in the male and it is essential for the regular development of male genitalia. Translocations involving the human sex chromosomes are rarely reported, however here we are reporting a very ..
  58. Colombo E, Collombat P, Colasante G, Bianchi M, Long J, Mansouri A, et al. Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation. J Neurosci. 2007;27:4786-98 pubmed
    ARX loss-of-function mutations cause X-linked lissencephaly with ambiguous genitalia (XLAG), a severe neurological condition that results in profound brain malformations, including microcephaly, absence of corpus callosum, and impairment ..
  59. Searle L, Graham J, Prasad C, Blake K. CHARGE syndrome from birth to adulthood: an individual reported on from 0 to 33 years. Am J Med Genet A. 2005;133A:344-9 pubmed
    ..At 33 years of age, he lives independently in a supervised group home, receives regular eye check-ups and is being monitored for severely reduced bone density...
  60. Estrada B, Casares F, Sánchez Herrero E. Development of the genitalia in Drosophila melanogaster. Differentiation. 2003;71:299-310 pubmed
    ..This disc, whose growth and shape are sexually dimorphic, gives rise to the genitalia and analia, the more posterior structures of the fruit fly...
  61. Graham J, Rosner B, Dykens E, Visootsak J. Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome. Am J Med Genet A. 2005;133A:240-7 pubmed
  62. Perriton C, Powles N, Chiang C, Maconochie M, Cohn M. Sonic hedgehog signaling from the urethral epithelium controls external genital development. Dev Biol. 2002;247:26-46 pubmed
    ..In mice with a targeted deletion of Shh, external genitalia are absent. Genital swellings are initiated, but outgrowth is not maintained...
  63. Yamada G, Suzuki K, Haraguchi R, Miyagawa S, Satoh Y, Kamimura M, et al. Molecular genetic cascades for external genitalia formation: an emerging organogenesis program. Dev Dyn. 2006;235:1738-52 pubmed
    External genitalia are anatomical structures located at the posterior embryonic region as part of several urogenital/reproductive organs...
  64. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka Kogo A, Kusaka M, et al. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet. 2002;32:359-69 pubmed
    ..These characteristics recapitulate some of the clinical features of X-linked lissencephaly with abnormal genitalia (XLAG) in humans...
  65. Williamson L, Arlt W, Shackleton C, Kelley R, Braddock S. Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. Am J Med Genet A. 2006;140A:1797-803 pubmed
    ..attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency...
  66. Rangecroft L. Surgical management of ambiguous genitalia. Arch Dis Child. 2003;88:799-801 pubmed
    The surgical management of children born with ambiguous genitalia has always been difficult, subject to evolving attitudes and techniques, and at times controversial...
  67. Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, et al. Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005;90:414-26 pubmed
    ..families (two pairs of siblings and six isolated cases) with Antley-Bixler syndrome accompanied by abnormal genitalia and/or impaired steroidogenesis...
  68. Moczek A, Nijhout H. Trade-offs during the development of primary and secondary sexual traits in a horned beetle. Am Nat. 2004;163:184-91 pubmed
    ..examine the nature and magnitude of developmental trade-offs between two very distant body parts: head horns and genitalia of males of the horned scarab beetle Onthophagus taurus...
  69. Bernstein V, Denno L. Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options. Am J Med Genet A. 2005;133A:232-9 pubmed
    ..The student, now 19 years old, has made progress in her educational program and has been able to experience more community integration...
  70. Merritt R, Jenks B. Safety of soy-based infant formulas containing isoflavones: the clinical evidence. J Nutr. 2004;134:1220S-1224S pubmed
    ..Available evidence from adult human and infant populations indicates that dietary isoflavones in soy infant formulas do not adversely affect human growth, development, or reproduction...
  71. Kohler B, Pienkowski C, Audran F, Delsol M, Tauber M, Paris F, et al. An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects. Eur J Endocrinol. 2004;150:825-30 pubmed
    ..This study reports the clinical and molecular data of an XY patient with a very unusual phenotype due to a Wilms' tumor-suppressor (WT1) gene mutation. The genotype-phenotype relationship of different WT1 mutations is then discussed...
  72. Hartshorne T, Grialou T, Parker K. Autistic-like behavior in CHARGE syndrome. Am J Med Genet A. 2005;133A:257-61 pubmed
    ..However, the variance for CHARGE was larger than for the normative groups, and 27.5% of those with CHARGE could be classified as autistic. The pattern of subscale scores for those with CHARGE differed from the other normative groups...
  73. Thyen U, Lanz K, Holterhus P, Hiort O. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66:195-203 pubmed
    In this epidemiological study, we sought to capture the incidence of ambiguous genitalia in neonates and to describe initial management strategies.
  74. Martin D, Probst F, Fox S, Schimmenti L, Semina E, Hefner M, et al. Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002;111:27-30 pubmed
    ..Together, these data indicate that PITX2 mutations are unlikely to be a major contributing cause of the multiple anomalies present in individuals with CHARGE...
  75. Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A. Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. Am J Med Genet A. 2004;128A:333-9 pubmed
    ..Our results demonstrate that mutations in POR cause the ABS phenotype with autosomal recessive inheritance and with characteristic abnormalities in steroidogenesis...
  76. Arrington C, Cowley B, Nightingale D, Zhou H, Brothman A, Viskochil D. Interstitial deletion 8q11.2-q13 with congenital anomalies of CHARGE association. Am J Med Genet A. 2005;133A:326-30 pubmed
    ..Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association...