Q98.1 - Klinefelter syndrome, male with more than two X chromosomes
| ICD-10: | Q98.1 |
| Short Description: | Klinefelter syndrome, male with more than two X chromosomes |
| Long Description: | Klinefelter syndrome, male with more than two X chromosomes |
| Status: | Valid for Submission |
| Version: | ICD-10-CM 2023 |
| Code Classification: |
Table of Contents
- 1. Approximate Synonyms
- 2. Clinical Information
- 3. Tabular List of Diseases and Injuries
- 4. Index to Diseases and Injuries References
- 5. Code Edits
- 6. Diagnostic Related Groups - MS-DRG Mapping
- 7. Present on Admission (POA)
- 8. Convert to ICD-9 Code
- 9. Patient Education
- 10. Related Codes Browser
- 11. Code History
Q98.1 is a billable ICD-10 code used to specify a medical diagnosis of klinefelter syndrome, male with more than two x chromosomes. The code is valid during the fiscal year 2023 from October 01, 2022 through September 30, 2023 for the submission of HIPAA-covered transactions. The code is exempt from present on admission (POA) reporting for inpatient admissions to general acute care hospitals.
This code is applicable to male patients only. It is clinically and virtually impossible to use this code on a non-male patient.
Approximate Synonyms
The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis code:
- Klinefelter syndrome
- Klinefelter syndrome
- Klinefelter syndrome
- Klinefelter syndrome
- Klinefelter's syndrome XXXXY
- Klinefelter's syndrome XXXY
- Klinefelter's syndrome, XXYY
- Klinefelter's syndrome, XY/XXY mosaic
- Mosaic including XXXXY
- Sex chromosome mosaicism
- XXXXY syndrome
- XXXY syndrome
Clinical Information
- Klinefelter Syndrome-. a form of male hypogonadism, characterized by the presence of an extra x chromosome, small testes, seminiferous tubule dysgenesis, elevated levels of gonadotropins, low serum testosterone, underdeveloped secondary sex characteristics, and male infertility (infertility, male). patients tend to have long legs and a slim, tall stature. gynecomastia is present in many of the patients. the classic form has the karyotype 47,xxy. several karyotype variants include 48,xxyy; 48,xxxy; 49,xxxxy, and mosaic patterns ( 46,xy/47,xxy; 47,xxy/48,xxxy, etc.).
Index to Diseases and Injuries References
The Index to Diseases and Injuries is an alphabetical listing of medical terms, with each term mapped to one or more ICD-10 code(s). The following references for this diagnosis code are found in the injuries and diseases index:
- - Klinefelter's syndrome - Q98.4
- - male with more than two X chromosomes - Q98.1
- - XXXXY syndrome - Q98.1
Code Edits
The Medicare Code Editor (MCE) detects and reports errors in the coding of claims data. The following ICD-10 Code Edits are applicable to this code:
- Diagnoses for males only - The Medicare Code Editor detects inconsistencies between a patient’s sex and any diagnosis on the patient’s record, these edits apply to MALES only .
Present on Admission (POA)
Q98.1 is exempt from POA reporting - The Present on Admission (POA) indicator is used for diagnosis codes included in claims involving inpatient admissions to general acute care hospitals. POA indicators must be reported to CMS on each claim to facilitate the grouping of diagnoses codes into the proper Diagnostic Related Groups (DRG). CMS publishes a listing of specific diagnosis codes that are exempt from the POA reporting requirement. Review other POA exempt codes here.
CMS POA Indicator Options and Definitions
| POA Indicator Code | POA Reason for Code | CMS will pay the CC/MCC DRG? |
|---|---|---|
| Y | Diagnosis was present at time of inpatient admission. | YES |
| N | Diagnosis was not present at time of inpatient admission. | NO |
| U | Documentation insufficient to determine if the condition was present at the time of inpatient admission. | NO |
| W | Clinically undetermined - unable to clinically determine whether the condition was present at the time of inpatient admission. | YES |
| 1 | Unreported/Not used - Exempt from POA reporting. | NO |
Convert to ICD-9 Code
| Source ICD-10 Code | Target ICD-9 Code | |
|---|---|---|
| Q98.1 | 758.7 - Klinefelter's syndrome | |
| Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code. | ||
Patient Education
Klinefelter Syndrome
Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development.
The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have:
- Smaller testes and penis
- Breast growth
- Less facial and body hair
- Reduced muscle tone
- Narrower shoulders and wider hips
- Weaker bones
- Decreased sexual interest
- Lower energy
KS males may have learning or language problems. They may be quiet and shy and have trouble fitting in.
A genetic test can diagnose KS. There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives.
Treatments include testosterone replacement therapy and breast reduction surgery. If needed, physical, speech, language, and occupational therapy may also help.
NIH: National Institute of Child Health and Human Development
[Learn More in MedlinePlus]
48,XXXY syndrome
48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.
Most boys and men with 48,XXXY syndrome have mild intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. The problems with speech and communication can contribute to behavioral issues, including irritability and outbursts or temper tantrums. Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills.
48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected boys and men tend to be taller than their peers, with an average adult height of over 6 feet.
Other physical differences associated with 48,XXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds). However, some boys and men with 48,XXXY syndrome do not have these differences in their facial features.
48,XXXY syndrome disrupts male sexual development. The penis is shorter than usual, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes typically do not produce sperm, so most men with this condition are infertile.
[Learn More in MedlinePlus]
49,XXXXY syndrome
49,XXXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.
Boys and men with 49,XXXXY syndrome have mild or moderate intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. People with 49,XXXXY syndrome tend to be shy and friendly, but problems with speech and communication can contribute to behavioral issues, including irritability, difficulty tolerating frustration, defiant behavior, and outbursts or temper tantrums.
49,XXXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected infants and young boys are often shorter than their peers, but some catch up in height later in childhood or adolescence.
Other physical differences associated with 49,XXXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals have distinctive facial features that can include widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), and a flat bridge of the nose. Dental abnormalities are also common in this disorder.
49,XXXXY syndrome disrupts male sexual development. The penis is often short and underdeveloped, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes do not produce sperm, so all men with 49,XXXXY syndrome are infertile.
[Learn More in MedlinePlus]
Klinefelter syndrome
Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Most commonly, affected individuals are taller than average are unable to father biological children (infertile); however the signs and symptoms of Klinefelter syndrome vary among boys and men with this condition. In some cases, the features of the condition are so mild that the condition is not diagnosed until puberty or adulthood, and researchers believe that up to 75 percent of affected men and boys are never diagnosed.
Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. As a result of the small testes and decreased hormone production, affected males are infertile but may benefit from assisted reproductive technologies. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).
Other physical changes associated with Klinefelter syndrome are usually subtle. Older children and adults with the condition tend to be somewhat taller than their peers. Other differences can include abnormal fusion of certain bones in the forearm (radioulnar synostosis), curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus).
Children with Klinefelter syndrome may have low muscle tone (hypotonia) and problems with coordination that may delay the development of motor skills, such as sitting, standing, and walking. Affected boys often have learning disabilities, resulting in mild delays in speech and language development and problems with reading. Boys and men with Klinefelter syndrome tend to have better receptive language skills (the ability to understand speech) than expressive language skills (vocabulary and the production of speech) and may have difficulty communicating and expressing themselves.
Individuals with Klinefelter syndrome tend to have anxiety, depression, impaired social skills, behavioral problems such as emotional immaturity and impulsivity, attention-deficit/hyperactivity disorder (ADHD), and limited problem-solving skills (executive functioning). About 10 percent of boys and men with Klinefelter syndrome have autism spectrum disorder.
Nearly half of all men with Klinefelter syndrome develop metabolic syndrome, which is a group of conditions that include type 2 diabetes, high blood pressure (hypertension), increased belly fat, high levels of fats (lipids) such as cholesterol and triglycerides in the blood. Compared with unaffected men, adults with Klinefelter syndrome also have an increased risk of developing involuntary trembling (tremors), breast cancer (if gynecomastia develops), thinning and weakening of the bones (osteoporosis), and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis. (Autoimmune disorders are a large group of conditions that occur when the immune system attacks the body's own tissues and organs.)
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Code History
- FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
- FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
- FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
- FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
- FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
- FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
- FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
- FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016 (First year ICD-10-CM implemented into the HIPAA code set)
