CME INDIA Case Presentation by Dr B. Harish Dalra, MRCP, Endo UK, MRCP, Medicine. FRCP, MNAMS, Internal Medicine, Post graduate Diploma in Diabetology and Endo, UK. Darlaâs Health Care, Mysore, India.
CME INDIA Case Study:
Married 32 yr. old male and was referred for Erectile Dysfunction for last 2-3 years, reduced early morning erections.
No other symptoms. Not on any medications. No stress issues. Reduced secondary sexual characters noted. Was referred with random testosterone level. Which was low and referred for further evaluation and management.
Clinically
- Small bilateral gynecomastia.
- Tanner: Pubic 4, Testis 5-8ml(orchidometer).
- Absent hair growth in the chest.
- Other systemic examination normal.
How to proceed?
Non-diabetic, Fasting sugar 96mg/dl Urea/Creatinine -normal. Lipid Profile-normal.
CME INDIA Discussion:
Dr Awadhesh K Singh, DM endo., Kolkata: Marital status, any child? Anosmia? Testicular texture? LH/FSH?
Dr Harish Darla, Mysore: Father of two children 6 and 4 yrs. Small firm testis, volume on orchidometer is 5 ml.
Dr B K Shukla, Internist, Ara, Bihar:
- Work out (R/O) for Klinefelter. or mosaicism? By karyotyping.
- If so tester one therapy has role besides other measures.
- Is mid parental height more than 2 SD?
- Does the patient in question have speech and language deficits (especially expressive language), Learning disabilities (lower verbal IQ than performance IQ scores)? Poor self-esteem (increased incidence of anxiety, depression) If a mosaic for Klinefelter then, they do have children due to viable sperm in ejaculate???
Dr Harish Darla, Mysore: Sir, he looks tallish, and says as tall as his father. No — he is normal. No disability as such: still can he father a child — as its only during puberty that the testis size slightly enlarges and can have sperms in the ejaculate — child is 8 yrs. and 4yrs old.
Dr Prasun Dev, KIMS, Hyd: Why is the patient seeing you? Seeks treatment for what?
Theoretically can father child. Successful ICSI reported in Klinefelter. But don’t push it regarding existing children…đ
Dr Harish Darla, Mysore: He has come for ED — absolutely right sir would not even bother to touch about the existing children. He says it was normal pregnancy and did not undergo any intervention.
Dr B K Shukla, Bihar: Mosaic Klinefelter can have child as viable sperm present in ejaculateđđ˝đđ˝
Dr Harish Darla, Mysore: THIS CASE IS NOT A MOSSAIC.
Diagnosis Done says on this report Dr A K Singh
Chromosomal Analysis Report:
Dr Harish Darla, Mysore: Started on Testosterone inj today… only told him about low testosterone level but did not tell him about Klinefelterâs syndrome.
CME INDIA Learning Points
(By Dr Harish Darla, Mysore)
Klinefelterâs Syndrome
- Mostly is diagnosed at early age with non-progression of puberty or delayed puberty, some present for infertility, but in this case presented with Erectile dysfunction at a later age.
- Can a Klinefelterâs patient father a child? There are case reports that Klinefelterâs with mosaic pattern can father a child naturally and most of the patient needed assisted fertility. This patient has fathered 2 children.
- Sometimes itâs better to treat and discuss about the problems presented by the patient rather than talking about their fertility.
- What I learnt from this case – treat and discuss what the patient presented with; In diagnosis have written only HYPOGONADISM and kept it open.
CME INDIA Tail Piece:
- Tanner Staging, also known as Sexual Maturity Rating (SMR), is an objective classification system that providers use to document and track the development and sequence of secondary sex characteristics of children during puberty. It was developed by Marshall and Tanner while conducting a longitudinal study during the 1940s-1960s in England.
Pubic Hair Scale (both males and females)
- Stage 1: No hair
- Stage 2: Downy hair
- Stage 3: Scant terminal hair
- Stage 4: Terminal hair that fills the entire triangle overlying the pubic region
- Stage 5: Terminal hair that extends beyond the inguinal crease onto the thigh
Female Breast Development Scale
- Stage 1: No glandular breast tissue palpable
- Stage 2: Breast bud palpable under areola (1st pubertal sign in females)
- Stage 3: Breast tissue palpable outside areola; no areolar development
- Stage 4: Areola elevated above contour of the breast, forming âdouble scoopâ appearance
- Stage 5: Areolar mound recedes back into single breast contour with areolar hyperpigmentation, papillae development and nipple protrusion
Male External Genitalia Scale
- Stage 1: Testicular volume < 4 ml or long axis < 2.5 cm
- Stage 2: 4 ml-8 ml (or 2.5-3.3 cm long), 1st pubertal sign in males
- Stage 3: 9 ml-12 ml (or 3.4-4.0 cm long)
- Stage 4: 15-20 ml (or 4.1-4.5 cm long)
- Stage 5: > 20 ml (or > 4.5 cm long)
- Klinefelter’s syndrome (KS) is a genetic condition in which a male is born with an extra copy of the X chromosome. It refers to a group of chromosomal disorders in which the normal male karyotype, 46, XY, has at least one extra X chromosome. XXY aneuploidy.
- It is the most common human sex chromosome disorder.
- It is also the most common chromosomal disorder associated with male hypogonadism and infertility.
- It isn’t inherited. It occurs only as a result of a random genetic error after conception.
- We usually do FSH, LH, testosterone, oestradiol, prolactin, and insulin like growth factor (IGF)â1.
- At mid-puberty and later, FSH and LH levels rise to hypergonadotropic levels.
- Testosterone levels are at low or low-normal levels after an initial increase. Hence, most adult males with Klinefelter syndrome have hypergonadotropism with varying degrees of androgen deficiency.
- Men with Klinefelter syndrome have an increased risk of deep vein thrombosis and pulmonary embolism.
- Males born with Klinefelter’s syndrome may have low testosterone and reduced muscle mass, facial hair and body hair. Most males with this condition produce little or no sperm.
- Treatment may include testosterone replacement and fertility treatment.
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He will need Testosterone for life time
Monitor him with PSA
But
For his ED he will also need Tadalafil 10 mg for a long time once a reasonable amount of testosterone is built up
Thanks for your comments Sir, noted. Started him on Testosterone for now and will see how things are and then if needed will give Tadanafil
Do you suggest Tadalafil 10 mg daily?
I think itâs better to wait and watch as he had been having very low testosterone level, might take a little long to get his testosterone to normal values and steady state, if still he has ED then it can be given and 10mg sos can be advises
I would wait until we achieve a steady state of Testosterone level and if after that as well he has ED, then can add Tadanafil 10mg sod
Patient of KL Should be screened periodically for Diabetes and breast malignancy . Besides, they are also more likely to develop.. hypothyroidism, SLE etc
How common is DVT? What about DVT prophylaxis as part of management?
1.The mechanism of the association between VTE and KS is unclear but may be multifactorial. The increased VTE risk may be related to Xâlinked gene dosage as a contributing factor for disease susceptibility
2.B.zoller et al observed incidence rate for VTE (340.2 per 100Â 000Â person years) among KS patients isl similar to a UK case series of 412 KS patients in which the incidence rate was 388 per 100Â 000Â personâyears (160Â per 100Â 000Â personâyears for pulmonary embolism and 228 per 100Â 000Â personâyears for deep venous thrombosis
3.KS is associated with high risk for VTE. KS could be considered to be a genetic hypercoagulable state. This has clinical implications for the prevention and diagnosis of VTE among patients with KS.
KL Should also screened for prediabetes or diabetes periodically due to increased incidence . They are also at increased risk for breast cancer , hypothyroidism and SLE etc
It is interesting to know that Addition of each extra X chromosome decreases IQ by 15- 20% in KL. Like — XXY(80- 85%) >XXXY( 60 -to 80%) > XXXXY( ( 30-60%. roughly, (percentage expressed in bracket is mean IQ compared for age)
It is interesting to know that Addition of each extra X chromosome decreases IQ by 15- 20% in KL. Like — XXY(80- 85%) >XXXY( 60 -to 80%) > XXXXY( ( 30-60%. roughly, (percentage expressed in bracket is mean IQ compared for age)
Very illuminating points mentioned by you