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Tetrasomy X, also known as 48,XXXX, is a chromosomal disorder in which a female has four, rather than two, copies of the X chromosome.It is associated with intellectual disability of varying severity, characteristic "coarse" facial features, heart defects, and skeletal anomalies such as increased height, clinodactyly (incurved pinky fingers), and radioulnar synostosis (fusion of the long bones ...
According to a recent review, estrone levels have been elevated in 17 of 18 patients (94%), while estradiol levels have been elevated only in 13 of 27 patients (48%). [1] As such, estrone is the main estrogen elevated in the condition. [1] In more than half of patients, circulating androstenedione and testosterone levels are low to subnormal. [1]
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, [1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty.
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which female cells have only one X chromosome instead of two, or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.
XX male syndrome, also known as de la Chapelle syndrome, is a rare intersex condition in which an individual with a 46,XX karyotype develops a male phenotype. [2] Synonyms for XX male syndrome include 46,XX testicular difference of sex development (or 46,XX DSD) [3] [4] [5] [6]
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The most common presentation of 45,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. [8] There is a range of chromosomal anomalies within 45,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. [1]
The ICD-10-CM and ICD-10-PCS were developed by the Centers for Medicare and Medicaid Services (CMS) and the National Center for Health Statistics (NCHS). [ 48 ] [ 49 ] There are over 70,000 ICD-10-PCS procedure codes and over 69,000 ICD-10-CM diagnosis codes, compared to about 3,800 procedure codes and roughly 14,000 diagnosis codes found in ...