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. Darla’s 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.
- 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…🙂
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 ejaculate👆🏽👆🏽
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 Klinefelter’s syndrome.
CME INDIA Learning Points
(By Dr Harish Darla, Mysore)
- 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 Klinefelter’s patient father a child? There are case reports that Klinefelter’s with mosaic pattern can father a child naturally and most of the patient needed assisted fertility. This patient has fathered 2 children.
- Sometimes it’s 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 “double scoop” 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)–1.
- 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.