Presentation
Entire Body System
- Male Hypogonadism
Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. N Engl J Med. 1998 Jun 11. 338(24):1729-32. [Medline]. Kalantaridou SN, Makrigiannakis A, Zoumakis E, Chrousos GP. [emedicine.medscape.com]
Irvin Hirsch, Male Hypogonadism, Merck Manuals Dec 2014 [dontcookyourballs.com]
hypogonadism, and estradiol for female hypogonadism (usually with a progestogen to inhibit unwanted effects on the uterus ). [en.wikipedia.org]
- Tall Stature
Signs and symptoms of excess GH In children (gigantism): Abnormally rapid growth Very tall stature Painful joints Excessive sweating. [innerbody.com]
Gastrointestinal
- Bulimia Nervosa
Bulimia nervosa typically presents with menstrual irregularities and oligomenorrhea. Patients with anorexia and bulimia may also present with depressive episodes, social withdrawal, and other psychosocial disturbances. [emedicine.medscape.com]
Skin
- Lanugo
Physical findings in patients suffering from anorexia or bulimia can include lanugo (fine, soft, lightly pigmented hair), dry skin, and/or poor dental enamel from excessive vomiting. [emedicine.medscape.com]
Musculoskeletal
- Long Arm
The alpha subunit is composed of 92 amino acids and is encoded on the long arm of chromosome 6. The beta subunit is 121 amino acids and is encoded on the long arm of chromosome 19. [thehealthscience.com]
Urogenital
- Primary Amenorrhea
HH24 is characterized by primary amenorrhea in women, oligo or azoospermia with low to normal testosterone levels in men, and infertility. {ECO:0000269 PubMed:8220432, ECO:0000269 PubMed:9271483, ECO:0000269 PubMed:9280841}. [genecards.org]
Females present with primary amenorrhea, and some males present with micropenis. Kallmann syndrome results from the congenital absence of GnRH-producing neurons in the hypothalamus. [thehealthscience.com]
Female patients also give a history of primary amenorrhea. In children, idiopathic hypogonadotropic hypogonadism (IHH) can present identical to Kallmann syndrome, but without anosmia. [emedicine.medscape.com]
WE have previously described the clinical features of a 22-year-old woman who was evaluated in 1971 for primary amenorrhea and in whom we established the diagnosis of isolated deficiency of follicle-stimulating hormone (FSH). 1, 2 Serum FSH levels were [nejm.org]