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 level at baseline
PRL= 8.157 N 3.6-16.3ng/ml LH = 0.18 N 1.7-11.2UI/ml FSH= 1.06 N 2.1-18.6UI/ml Testosteron = 5.776 VN 2.62-8.7ng/dl azoospermia

Appropriate peripheral hormone(s) or parameter

Interpretation
normal

hypogonadism (primary, under treatement) euthyroidism

TSH = 1.658 mIU/ml

fT4 =15.22 VN 12-22pmol/l Ca total 9,06 mg/dl Phosphorus- 2,44 mg/dl

(N: 0. 27-4.2)
PTH=80,465 N 15-65ng/dl secondary 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,

Central hypogonadysm

GnRH deficiency Mutations in the leptin or leptin R Syndromes with mental retardation and hypogonadism

Leydig cells hypoplasia

Noonan syndrome Uncorrected cryptorchidism Myotonic Dystrophy "Sertoli cell only "

Isolated LH or FSH deficiency

Pituitary insufficiencies

Acquired forms :

central hypothalamic-pituitary lesions suppression of gonadotropins by:

Acquired Disorders:

hyperprolactinemia, administration of GnRH, sex steroids in high doses, opioids

gonadal irradiation, infectious diseases, trauma, autoimmune processes, drugs, chronic systemic disease.

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