5/28/2018 LP12

1/17

Case presentation

Male hypogonadism

5/28/2018 LP12

2/17

S.P, 52 y, male

Chief complaintsirritability,

fatigue,

behavioral disorders,

sexual disfunctions (libido , erectile dysfunction)

gynecomastia

5/28/2018 LP12

3/17

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

Medical history

5/28/2018 LP12

4/17

Physical examination

Characterisitic features:low muscle mass and strength,

reduced facial, axillary and troncular hair growth,

pubic hair growth - horizontal pubic insertion (triangular),

ginoidhabitus, with biacromial diameter smaller than bitrohanterianbilateral gynecomastia,

bilateral retractile testes,

V=8 mL, firm, painless, with peno-orchitis dissociation,

L- 181 cm, Arm Span187 cm

BMI= 32.9 kg/m2

5/28/2018 LP12

5/17

Physical examination

5/28/2018 LP12

6/17

Laboratory findings

Blood countnormal

Glycemia a jeun: 104 mg/dL

Total cholesterol: 227 mg/dL (N

5/28/2018 LP12

7/17

Hormonal assesment - 2007

FSH= 38,7 UI/L LH= 22,5 UI/L

Testosteron= 1,98 ng/dL

PRL= 15 ng/mL

Hypergonadotropic hypogonadism

5/28/2018 LP12

8/17

Genetic analysis

47 XXY

5/28/2018 LP12

9/17

Paraclinical examinations

Lombar spine x ray

L5 vertebral fragility fracture

Semen analysis - azoospermia

5/28/2018 LP12

10/17

Pituitary hormone

level at baseline

Appropriate peripheral

hormone(s) or parameter

Interpretation

PRL= 8.157

N

3.6-16.3ng/ml

normal

LH = 0.18

N1.7-11.2UI/ml

Testosteron = 5.776

VN2.62-8.7ng/dl hypogonadism

(primary, under

treatement)

FSH= 1.06

N

2.1-18.6UI/ml

azoospermia

TSH = 1.658 mIU/ml

(N: 0. 27-4.2)

fT4 =15.22

VN12-22pmol/l

euthyroidism

PTH=80,465

N15-65ng/dl

Ca total9,06 mg/dl

Phosphorus- 2,44 mg/dl

secondary

hyperparathyroidism

HORMONAL ASSESSMENT - 2011

5/28/2018 LP12

11/17

Final diagnosis:

Klinefelter Syndrome

Hypergonadotropic hypogonadism

Gr. II Arterial HypertensionDepression

Gr.I Obesity

5/28/2018 LP12

12/17

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.

5/28/2018 LP12

13/17

Treatment

Psychiatric counseling

Nebido (testosterone undecanoat) 1000 mg

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

Risendros 35 mg 1 tb/week

5/28/2018 LP12

14/17

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).

5/28/2018 LP12

15/17

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

5/28/2018 LP12

16/17

Evolution and prognosis

Increased risk of:

Germ tumor cells

Breast cancer (20x)

Osteoporosis

Infertility is definitive

5/28/2018 LP12

17/17

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