Case presentation

Male hypogonadism
S.P, 52 y, male

Chief complaints
 irritability,

 fatigue,

 behavioral disorders,

 sexual disfunctions (libido ↓, erectile dysfunction)

 gynecomastia
Medical history
• Infertility

• Hyperprolactinemia

• Absence of the secundary sexual characteristics

• diagnosis of hypogonadism - treatement with Testosterone i.m.

• Arterial hypertension: Amlodipin 10 mg/day, Atenolol 50

mg/day, Lisinopril 10mg/day

• Depression: Cipralex 10 mg/day, Valproic ac. 1tb/day

Physical examination
Characterisitic features:
 low muscle mass and strength,
 reduced facial, axillary and troncular hair growth,
 pubic hair growth - horizontal pubic insertion (triangular),
 ginoid habitus, with biacromial diameter smaller than bitrohanterian
 bilateral gynecomastia,
 bilateral retractile testes,
V=8 mL, firm, painless, with peno-orchitis dissociation,

 L- 181 cm, Arm Span – 187 cm

 BMI= 32.9 kg/m2
Physical examination
Laboratory findings
 Blood count – normal
 Glycemia a jeun: 104 mg/dL
 Total cholesterol: 227 mg/dL (N<199)
 Triglycerides: 120 mg/dL (N <149)
 Uric acid: 4.58 mg/dL (N: 2.6-7.2)
 Creatinine: 0.91 mg/dL (N: 0.6-1.3)
 Urea: 18.3 mg/dL (N: 10-50)
 AST, ALT, Na, K - normal
 PSA=1.525 (N < 4ng/ml)
Hormonal assesment - 2007
 FSH= 38,7 UI/L
 LH= 22,5 UI/L
 Testosteron= 1,98 ng/dL
 PRL= 15 ng/mL
↓
Hypergonadotropic hypogonadism
Genetic analysis

 47 XXY
Paraclinical examinations
 Lombar spine x ray– L5 vertebral fragility fracture

 Semen analysis - azoospermia

 HORMONAL ASSESSMENT - 2011
Pituitary hormone Appropriate peripheral Interpretation
level at baseline hormone(s) or parameter
PRL= 8.157 normal
N – 3.6-16.3ng/ml

LH = 0.18 Testosteron = 5.776

N – 1.7-11.2µUI/ml VN – 2.62-8.7ng/dl hypogonadism
(primary, under
FSH= 1.06 azoospermia
treatement)
N – 2.1-18.6µUI/ml

fT4 =15.22 euthyroidism

TSH = 1.658 mIU/ml VN – 12-22pmol/l
(N: 0. 27-4.2)
PTH=80,465 Ca total – 9,06 mg/dl secondary
N – 15-65ng/dl Phosphorus- 2,44 mg/dl hyperparathyroidism
Final diagnosis:

Klinefelter Syndrome
Hypergonadotropic hypogonadism
Gr. II Arterial Hypertension
Depression
Gr.I Obesity
 Differential diagnosis
 Primary hypogonadism:
 Bilateral anorchia
 Enzymatic defects in synthesis of
testosterone,
 pure gonadal dysgenesis,
 Incomplete androgen insensitivity,
 Leydig cells hypoplasia
 Noonan syndrome
 Uncorrected cryptorchidism
 Myotonic Dystrophy
 "Sertoli cell only "
 Acquired Disorders:
 gonadal irradiation, infectious
diseases, trauma, autoimmune
processes, drugs, chronic systemic
disease.
 Central hypogonadysm
 GnRH deficiency
 Mutations in the leptin or leptin R
 Syndromes with mental retardation
and hypogonadism
 Isolated LH or FSH deficiency
 Pituitary insufficiencies
 Acquired forms :
 central hypothalamic-pituitary
lesions
 suppression of gonadotropins by:
 hyperprolactinemia,
 administration of GnRH, sex steroids
in high doses, opioids
 chronic disease, type II diabetes.
Treatment
 Psychiatric counseling

 Nebido (testosterone undecanoat) 1000 mg

i.m. 1 f/3 months
 Monitoring: PSA, blood counts

 Risendros 35 mg 1 tb/week
Treatment
 Contraindications to treatment with androgens:

• high risk: prostate cancer

metastatic breast cancer

• moderate risk:
- prostatic node,
- severe benign prostatic hyperplasia,
- inexplicably high levels of PSA,
- polycythemia (hematocrit > 50%),
- severe obstructive sleep apnea,
- severe congestive heart failure (NYHA III/IV).
 Possible side effects of androgen
replacement therapy
 polycythemia,
 acne,
 subclinical prostate cancer, enlargement of
metastatic prostate cancer,
 gynecomastia, breast cancer,
 reduction of spermatogenesis and fertility,
 alopecia,
 induction/worsening of obstructive sleep apnea,
 impaired liver function and decreased HDL - c,
 pain at the injection site
Evolution and prognosis
Increased risk of:

 Germ tumor cells

 Breast cancer (20x)
 Osteoporosis
 Infertility is definitive
Evolution and prognosis
Klinefelter sy. may be associated with:
 chronic lung disease (emphysema, chronic bronchitis)
 mediastinal tumors, lung cancer
 non Hodgkin lymphoma, leukemia
 varicose veins
 cerebrovascular disease
 obesity,
 autoimmune thyroiditis, hypothyroidism,
 diabetes mellitus,
 peptic ulcer,
 taurodontism