Photo credit: Babatunde Olajide
Lekki – Ikoyi Link Bridge, Nigeria.
Although seldom reported, variances in Klinefelter’s Syndrome are only rare in the sense they are rarely reported. Usually this type of variant is documented as Androgen Insensitivity (AIS) and mostly because the genitalia more closely matches that of a female and not male, even in instances of ambiguity and with a clear XXY karyotype the preference among western researchers is for an AIS classification, So kudos to the West African’s for this Klinefelter diagnoses, a clear reason why might be they are not constrained by big pharmaceutical firms and parent advocacy groups insistent on leaving things as they are, where doing so helps to shore up the fragility of XXY/Klinefelter’s maleness. Not helping matters is the medical communities insistence that KS and XXY be used interchangeably and for reasons that infant children can be administered potent androgens designed for adults, all in the absence of any clear need, only that it will virilise their bodies in keeping with a parents wishes for a ‘male’ child.
In this instance neither the child nor the parents sought Androgen therapy, yet it remains the treatment of choice for doctors whose concept of the original clinical description of Klinefelter’s Syndrome, that of a male phenotypical appearance with female body habitus, gynaecomastia, small testes, remains justifiable in their administration of potent sex defining androgens. We firmly believe doctors can and should do so much better and that in all instances of a KS/XXY diagnoses the first line of treatment should be a referral to a clinical psychologist to ascertain what if any hormonal treatment is right for them, doing so would alleviate established findings of mood disorders post diagnoses and treatment with androgens.
A 19-year old lady presented at the Surgical Out-Patient Department of State Specialist Hospital, Yobe state, Nigeria; on self-referral. She complained of bilateral, painless, groin swellings that were noticed since 10 years ago. There was no change in size or change in the skin overlying the mass. The patient is an identical twin, delivered by a 35-year-old mother following an unsupervised pregnancy. Both twin babies were said to have normal developmental milestones and developed female secondary sexual characteristics at puberty. Parents noticed the bilateral groin swellings in the index patient, but, did not give it any significance due to its painlessness. The patient became worried by her failure to achieve menarche at the age of 18 years like her twin sister. She presented at the hospital on self-referral because, she thought her failure to achieve menarche may be related to the groin swellings
On examination, a tall, slim lady was seen with an obvious feminine body habitus, bilateral Tanner stage three breasts and feminine distribution of pubic hair. There are bilateral ovoid groin swellings with no demonstrable visible or palpable expansile cough impulse, each about 342cm, not warm or tender, firm, smooth with well-defined margins. They were freely mobile. Vaginal examination revealed a micro-penis, about 6cm in non-erect position, blind ended 2cm vaginal cavity and absent scrotum. Central Nervous System examination showed a fully alert and oriented patient with excellent Mental functions and no visible speech difficulty. No cardiac or pulmonary abnormalities were noted.
Abdominal USS revealed bilateral benign groin swellings in keeping with testicular tissues, absent uterus and ovaries and right renal agenesis. Buccal smear showed no Bar Bodies. Fasting Plasma Glucose measured was within normal range. Bilateral, open, groin exploration was done after an informed consent and excisional biopsy of the groin masses was done. Histological assessment showed groin masses made mainly of Seminiferous tubules. Both patient and parents opted to maintain a feminine gender despite detailed explanation of the diagnosis. Although patient and parents gave consent for publication of a case report, they denied consent for taking photographs of the face or sexual organs because of their religious beliefs. The other twin sister is phenotypically female with well-developed breasts and a grossly normal uterus, ovaries and capacious vagina. She menstruates regularly.
The term Klinefelter Syndrome was initially a clinical description of a phenotypic appearance of a male with female body habitus, gynaecomastia, small hypoplastic testes and primary infertility. The speech and cognitive impairment is not a universal occurrence and depressive moods often begins after clinical diagnosis. Karyotyping revealed the classical chromosomal anomaly of 47, XXY and the other mosaics. Some studies placed the incidence of Klinefelter syndrome in the neonatal period at 1/500-1000 and in adults at 1/2500. This study however, alleged that the incidence of KS in adults may be under-reported due to lack of life-threatening morbidities and estimated that more than 50% of cases of KS go undiagnosed. The incidence among infertile patients is about 11% of azoospermic and 0.7% of oligozoospermic men with 47, XXY karyotype. There is dearth of literature highlighting the incidence in Africa, particularly, the West African region and also the incidence among Identical Twins.
Diagnosis is often delayed, especially in Africa. This problem has been noted globally. Some reports indicated that postnatal diagnosis of XXY is often delayed, and parents are often left confused about the phenotypic appearance of their child and often perpetually anxious about some of the cognitive impairments and psychosocial disorders exhibited by the older children. Even in developed nations a prenatal diagnosis of KS is often incidental following amniocentesis for other unrelated events and the babies often have other congenital anomalies that may put significant strain on the ability of parents to take decision about the fate of the pregnancy.
Our patient presented at the age of 19 years in keeping with the delayed diagnosis noted in previous reports. She failed to achieve menarche despite the presence of a female body habitus, well developed breasts and the presence of what looked like a normal vagina. The decision of the patient and her parents to reject treatment and maintain a feminine gender hampered the use of medical assistance. Many of the patients with KS improve on Testosterone Replacement Therapy (TRT) depending on the severity. Intramuscular injection of testosterone is the most common method of treatment. Although the extent of response to treatment is variable.