Acronym HH18 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Presentation [ edit ] Congenital hypogonadotropic hypogonadism presents as hypogonadism, e.g., reduced or absent puberty, [1] low libido, infertility, etc. due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing [en.wikipedia.org]

Cerebellar ataxia is present in nearly 40 percent of individuals. However, there is marked variability in the rate of progression. [disorders.eyes.arizona.edu]

Unusual presentation of more common disease/injury Idiopathic hypogonadotropic hypogonadism reversal after testosterone replacement in a 34-year-old male Owais Rashid 1, Nanik Ram 1, Saad Farooq 2, Zareen Kiran 1 1 Department of Endocrinology, Aga Khan [casereports.bmj.com]

In this report, we offer a brief overview of the diagnosis and management of IHH and present the case of a 27 year old male with undiagnosed IHH. [omicsonline.org]

• Splenomegaly

  All patients with AHH had undergone splenectomy due to hypersplenism and/or massive splenomegaly, versus 50% of the control group. [mjhid.org]

• Osteopenia

  Women with hypogonadotropic hypogonadism are at a high risk of dislipidemia, urogenital disorders and osteopenia. Hormonal replacement therapy provides positive effects on BMD, lipid profile, urogenital status and well-being of these patients. [endocrine-abstracts.org]

  Related symptoms: Autosomal dominant inheritance Hearing impairment Osteoporosis Osteopenia SOURCES: OMIM UMLS More info about HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA; HH21 Low match HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA [mendelian.co]

  The symptoms of low testosterone in men range from lack of energy, depressed mood, loss of vitality, muscle atrophy (sarcopenia), muscles aches, low libido, erectile dysfunction, and weight gain...to bone loss (osteopenia), osteoporosis, mild anemia, [tupincho.net]

  An abdominal CT and DEXA scan revealed undescended testes and osteopenia, respectively. He was diagnosed as IHH. The patient was provided with supplementary vitamin D, calcium and referrals to endocrinology and urology for orchiopexy. [omicsonline.org]

  Osteopenia or osteoporosis was defined according to World Health Organization (WHO) criteria, based on BMD expressed as Z-score: osteopenia (Z-score between –1 to –2.5 SD) and osteoporosis (Z-score 19 ] Z-score is the number of standard deviations above [mjhid.org]

• Tremor

  Mild chorea, upper limb tremor, mild ataxia, and extensor plantar responses may be seen. Deafness has been described. [disorders.eyes.arizona.edu]

  Other signs and symptoms that you may find interesting Delayed speech and language development and Umbilical hernia, related diseases and genetic alterations Delayed speech and language development and Stroke, related diseases and genetic alterations Tremor [mendelian.co]

[…] in testosterone that occurs in the afternoon.[ 4-6 ] Screening for hypogonadism in the general population is not indicated.[ 4 ] Case finding in selected circumstances is, however, acceptable, such as when testing for low testosterone is part of the workup [bcmj.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

[…] men (P 0.001). mean height of patients whose treatment began between ages 10 and 17 yr 175.0 7.8 cm, not differ significantly from that of normal men, significantly less than the height patients whose treatment began after age 18 (P 0.005). [factpub.org]

[…] cancer in the past.[ 4, 5 ] It is the author’s opinion that a year or two after successful surgical treatment for prostate cancer and in consultation with the patient’s urologist or oncologist, testosterone treatment can be provided for carefully selected [bcmj.org]

Treatment Treatment Options: No treatment for the general disorder has been described. [disorders.eyes.arizona.edu]

Guild The course and prognosis of reticulsendotheliosis (eosinophilic granuloma SchullerChrstian disease and leterer-Siwe disease) Amer. J. Med, 32 (1957), pp. 636 [23.] P. Enriquez, D.C. Dahlin, A.B. Hayles, E.D. [archbronconeumol.org]

If the patient has normal pubertal development and a uterus, the most common etiology is congenital outflow tract obstruction with a transverse vaginal septum or imperforate hymen. [aafp.org]

Restoration of spermatogenesis with pulsatile gonadotropin releasing hormone therapy in hypogonadotropic hypogonadism of traumatic etiology. Aust. N.Z. J. Med. 19: 354, 1989. PubMed CrossRef Google Scholar 3. [link.springer.com]

Zinkham Multifocal eosinophilic granuloma Natural history, etiology and management. Amer. J. Med, 60 (1976), pp. 452 [25.] Case Records of the M. G. H N. Engl J Med Case, 5 (1978), [26.] R.V. Randall, E.C. Clark, R.C. [archbronconeumol.org]

Etiology is usually unknown. Sperm counts may be slightly low if one testis is undescended but are almost always very low if both are undescended. [merckmanuals.com]

Although a strong association between pituitary R2 and pituitary volume with clinical disease suggests that secondary hypogonadism is the dominant etiology, we cannot exclude tertiary hypogonadism. [mjhid.org]

Relevant External Links for IL17RD Genetic Association Database (GAD) IL17RD Human Genome Epidemiology (HuGE) Navigator IL17RD Atlas of Genetics and Cytogenetics in Oncology and Haematology: IL17RD No data available for Genatlas for IL17RD Gene Alternative [genecards.org]

Epidemiologic studies have led to the division of febrile seizures into 3 groups, as follows: Simple febrile seizures Complex febrile seizures Symptomatic febrile seizures Children with simple febrile seizures are neurologically and developmentally healthy [centogene.com]

[…] hypogonadotropic hypogonadism Sinisi, AA; Esposito, D; Maione, L; Quinto, MC; Visconti, D; Bellis, A; Bellastella, A; Conzo, G; Bellastella, G MR evaluation of patients with congenital hyposmia or anosmia Yousem, DM; Geckle, RJ; Bilker, W; McKeown, DA; Doty, RL Epidemiology [deepdyve.com]

The epidemiology of polycystic ovary syndrome. Prevalence and associated disease risks. Endocrinol Metab Clin North Am. 1999;28:247–63. 23. Chang RJ, Katz SE. Diagnosis of polycystic ovarian syndrome. [aafp.org]

We call this primary hypogonadism. 00:53 How would you call this pathophysiologically? You would call this hypogonadism. The testis are not functioning properly. [lecturio.com]

References Seminara S B, Hayes F J, Crowley Jr W F (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropichypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. [omicsonline.org]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations Seminara, SB; Hayes, FJ; Crowley, WF Idiopathic gonadotropin deficiency. [deepdyve.com]

Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age: pathophysiological aspects and diagnostic usefulness. [frontiersin.org]

N Engl J Med 2003;349:1614-1627 Seminara SB, Hayes FJ, Crowley WF, Jr: Gonado-tropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. [karger.com]

Good dietary control may prevent the formation and progression of cataracts and it has been reported that they may regress as well but only prior to the rupture of cell membranes. [disorders.eyes.arizona.edu]

Because insulin resistance is an important risk factor for cardiovascular disease as well as type 2 diabetes, it is important to investigate this relationship for the implications it may have for prevention of and therapeutic interventions for these disorders [clinicaltrials.gov]

Surgery as needed Hormone replacement Cryptorchidism is corrected early to obviate concerns about cancer developing in later adulthood and to prevent testicular torsion. [merckmanuals.com]

While SOCS-3 interferes with insulin signal transduction by causing the ubiquitination and proteasomal degradation of IRS-1 ( 27 ), IKK-β induces serine phosphorylation of IRS-1 and thus prevents insulin signal transduction though IRS-1 ( 28 ). [care.diabetesjournals.org]

Treatment goals include prevention of complications such as osteoporosis, endometrial hyperplasia, and heart disease; preservation of fertility; and, in primary amenorrhea, progression of normal pubertal development. [aafp.org]