The patient is presenting with a eunuchiod body shape, gynecomastia, testicular atrophy and most likely has azoospermia, which is likely the cause of his inability to get his wife pregnant. The patient most likely has Klinefelter's syndrome which is due to the presence of an extra X sex chromosome (47: XXY).
Klinefelter's syndrome results from nondisjunction during meiosis or due to a translocation; one of the extra X chromosomes becomes a Barr body. Klinefelter's affects as many as 1 in 500 to 1,000 males and is a typical reason for infertility in men, and the rate is estimated to be even higher in those who are mentally retarded (1 in 100). The syndrome leads to the dysgenesis of seminiferous tubules and loss of Sertoli cells. As a result there is a cascade of effects, including a decrease of inhibin resulting in an increase of FSH. This increase of FSH upregulates aromatase leading to the increased conversion of androgens to estrogens. Similarly, there is Leydig cell dysfunction which leads to a decreased production of testosterone and a resulting increase in LH.
Wattendorf and Muenke review Klinefelter syndrome. They discuss that the findings for the disease are nonspecific during childhood, but they become apparent during the time surrounding puberty and adulthood. Those affected display symptoms that are related to a decrease in testosterone. Patients typically present with small, underdeveloped testes with a small penis, lack of pubic and facial hair, gynecomastia, and they are infertile.
Martini discusses a typical case report of a 26-year-old male with Klinefelter's syndrome. He presented with chronic fatigue, and physical exam revealed a eunuchoid body with little facial hair, small testes but no gynecomastia. He stated that he did have regular sex but he stated that his libido was low. His serum levels of gonadotropins were elevated with a low level of testosterone, his semen contained no sperm, and his karyotype demonstrated the presence of an extra sex X chromosome (47: XXY). He was treated with intramuscular testosterone every 2 weeks, which improved his energy levels, muscle mass, and libido.
Illustration A is a schematic explaining the hypothalamic–pituitary–gonadal axis and the feedback pathways of the system.
Answer 1: Patients with Trisomy 13 have Patau's synrome and present with mental retardation and display any number of the following characteristics: microphthalmia, microcephaly, cleft lip/palate, holoprosencephaly, and/or polydactyly.
Answer 2: Patients with Trisomy 21 have Down syndrome and present with mental retardation and display the following characteristics: short stature, hypotonia, epicanthal folds, macroglossia, flat profile, depressed nasal bridge, and a simian crease in the palm.
Answer 3: Patients with 47 XYY have XYY syndrome and are very tall with severe acne. These patients have normal sexual characteristics and function.
Answer 5: Patients with 45 XO have Turner's syndrome. They display the following characteristics: short stature, webbed neck, shield chest, and have wrist and ankle edema due to malformed lymphatic vasculature. They do have abnormal sexual differentiation which presents with primary amenorrhea, infertility, delayed sexual maturation, and streak gonads. They have normal intelligence.
Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician. 2005 Dec 1;72(11):2259-62. Review.
PMID:16342850 (Link to Abstract)
Martini R. [Klinefelter's syndrome: diagnosis and treatment. Case report]. Minerva Med. 2001 Oct;92(5):385-92.
PMID:11675582 (Link to Abstract)