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  • ACTHAdrenocorticotropic hormone
  • AKR1C2 3α-Hydroxysteroid dehydrogenase-3 (3α-HSD-3)
  • AMH Anti-Müllerian hormone
  • BPES Blepharophimosis-ptosis-epicanthus inversus syndrome
  • CAH Congenital adrenal hyperplasia
  • CIS Carcinoma in situ
  • CBX2 Chromobox homolog 2, homolog of mouse m33
  • CMPD1 Campomelic dysplasia
  • DAX1DSS-AHC-critical region on the X chromosome gene 1
  • DHEA Dehydroepiandrosterone
  • DHH Desert hedgehog
  • DHT Dihydrotestosterone
  • DMRT1 Double sex Mab3-related transcription factor gene 1
  • DSS Dosage-sensitive sex reversal
  • DSD Disorders of sexual development—congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical
  • 46,XX DSD Previously designated female pseudohermaphrodite
  • 46,XY DSD Previously designated male pseudohermaphrodite
  • FISH Fluorescent in situ hybridization
  • FGF-9 Fibroblast growth factor-9
  • FOXL2 Forkhead box L2
  • FSH Follicle-stimulating hormone
  • GATA-4 Member of the GATA family of zinc finger transcription factors
  • GHGrowth hormone
  • GnRHGonadotropin-releasing hormone
  • hCG Human chorionic gonadotropin
  • HMG High mobility group
  • 17β-HSD-3 17β-Hydroxysteroid dehydrogenase-3
  • ICSI Intracytoplasmic sperm injection
  • IGF Insulin-like growth factor
  • LH Luteinizing hormone
  • MAMLD1 Mastermind-like domain containing 1
  • MAP3K4 Mitogen-activated protein kinase kinase kinase 4
  • Ovotesticular DSD Previously designated true hermaphrodism
  • PAR Pseudoautosomal region
  • POR P450 oxidoreductase
  • PRKX Protein kinase X linked
  • PRKY Protein kinase Y linked
  • RFLP Testriction fragment length polymorphism
  • RSPO1 R-spondin1
  • SF-1 Steroidogenic factor-1
  • SHOX Short stature homeobox gene on the X chromosome
  • SOX3 SRY-like HMG box-3
  • SOX9 SRY-like HMG box-9
  • SRY Sex-determining region Y gene
  • StAR Steroidogenic acute regulatory protein
  • TSPY Testes-specific protein-Y encoded
  • WAGR Wilms tumor-aniridia-genital anomalies-mental retardation syndrome
  • WNT4 Human homolog of Drosophila wingless gene
  • WT1 Wilms tumor gene
  • XIST X-inactive specific transcript gene

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Lowercase letters for genes, for example, Sry, Sox9, Fgf9 are used to indicate the mouse homologue of the human gene where a particular function has not yet been demonstrated in humans.

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Advances in developmental and cell biology, molecular genetics, experimental embryology, steroid biochemistry, and methods of evaluation of the interaction between the hypothalamus, pituitary, and gonads as well as behavioral science have helped clarify problems of sexual determination and differentiation. Anomalies may occur at any stage of intrauterine development of the hypothalamus, pituitary, gonads, and genitalia and lead to gross ambisexual development or to subtle abnormalities that do not become manifest until sexual maturity is achieved.

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Chromosomal Sex

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The normal human diploid cell contains 22 autosomal pairs of chromosomes and two sex chromosomes (two Xs, or one X and one Y). When arranged serially and numbered according to size and centromeric position, they are known as a karyotype. Advances in the techniques of staining chromosomes permit positive identification of each chromosome by its unique banding pattern. A technique called fluorescence in situ hybridization (FISH) is particularly useful in identifying quickly both sex chromosomes, mosaicism and structural abnormalities involving the sex chromosomes, the presence or absence of SRY (the testes determining gene on the Y chromosome), and other deleted genes (Figure 14–1). High-resolution chromosome banding and painting techniques provide precise identification of each chromosome.

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