Hypogonadism differential diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]

Overview

Hypogonadism must be differentiated from diseases that cause delayed puberty or infertility. These diseases include congenital diseases as Klinefelter syndrome, Kallmann syndrome and cryptorchidism. The diseases also include testicular torsion and orchitis in males, polycystic ovary syndrome, pelvic inflammatory disease, and endometriosis in females.

Differentiating Hypogonadism from other Diseases

Hypogonadism must be differentiated from diseases that cause delayed puberty or infertility. These diseases include congenital diseases as Klinefelter syndrome, Kallmann syndrome and cryptorchidism. The diseases also include testicular torsion and orchitis in males, polycystic ovary syndrome, pelvic inflammatory disease, and endometriosis in females.

Diseases		Clinical findings	Diagnosis	Manangement
Congenital diseases	Klinefelter syndrome	Language learning impairment Neuropsychological testing often reveals deficits in executive functions Delays in motor development	Karyotyping Semen analysis Serum estradiol levels (a type of estrogen) Serum follicle stimulating hormone Serum luteinizing hormone Serum testosterone	Testosterone therapy may be indicated to treat the symptoms of the disease.
	Kallmann syndrome	Hypogonadism Anosmia	Serum follicle stimulating hormone Serum luteinizing hormone Serum testosterone Gonadotropin hormones	Testosterone replacement therapy Estrogen replacement therapy (in females)
	Cryptorchidism	Empty scrotum Inguinal fullness	Ultrasonography may be indicated to locate the gonads	Treatment of cryptorchidism is mainly surgical in order to reduce the risk of malignancy Orchiopexy surgery is recommended in order to reposition the undecsended testes.
Male diseases	Testicular torsion	Sudden onset of severe pain in one testicle, with or without a previous predisposing event Swelling within one side of the scrotum (scrotal swelling) Nausea or vomiting Lightheadedness Bell clapper deformity of testes on examination	Scrotal ultrasound Urinalysis to exclude bacterial infection	Management is mainly surgical through detorsion and fixation of the affected testes.
	Orchitis	Scrotal swelling Scrotal pain urinary tract infections Nausea, vomiting and chills Prehn's sign positive Costovertebral angle tenderness  Fever	Urethral Gram stain Urinalysis Urine culture PCR to detect the presence of Neisseria gonorrheae and Chlamydia trachomatis Scrotal ultrasound is the diagnostic imaging of choice in cases of acute scrotum.	Bed rest and limitation of physical activity Use of cold packs Analgesia Non-steroidal anti-inflammatory drugs (NSAIDs) Levofloxacin in bacterial infeciton.
Female diseases	Polycystic ovarian syndrome (PCOS)	Amenorrhea Oligoamenorrhea Ovarian cysts Pelvic pain Dysparuenia Acne Hirsutism Anxiety and depression Sleep apnea	Blood testosterone level LH and FSH levels Pelvic ultrasound	Clomiphene citrate and metformin to manage infertility. Cyproterone acetate for the treatment of acne and hirsutism. Spironolactone
	Pelvic inflammatory disease	Bilateral abdominal pain Abnormal uterine bleeding Urinary frequency Abnormal vaginal discharge Fever Decreased bowel sounds	Nucleic acid amplification tests is the best laboratory test for PID. Transvaginal utrasonography	Broad spectrum antibiotics Hospitalization
	Endometriosis	Dyspareunia Nausea and vomiting Intermenstrual spotting Prolonged menstrual bleeding and increased amount of bleeding (menorrhagia) Acute abdomen	Features of iron deficiency anemia may be present such as: Low MCV, Low MCHC Elevated RBC distribution width Elevated levels of serum cancer antigen-125 in some cases.[1] Increased levels of interleukin 1, chemoattractant protein-1 and interferon gamma may be present in patients with endometriosis. These are useful markers to monitor the disease activity and progression.[2]	Medical therapy: Gonadotrophin releasing hormone agonists Oral contraceptive pills Aromatase inhibitors Surgery: Conservative removal of the endometrial tissues by laser or electrocautry Definitive surgeryhysterectomy with bilateral salpingo-oophorectomy.