Thus, a thorough assessment for ophthalmological, neurological and endocrinological changes in patients presenting with one of the key features is recommended. [neurology.org]

Affected boys usually present with primary adrenal failure in infancy or childhood and HH at the expected time of puberty. DAX1 mutations have also been reported to occur with a wider spectrum of clinical presentations. [scholars.northwestern.edu]

As presented in our case, hypogonadotropic hypogonadism might be a presenting feature in patients with 47,XYY genotype. [endocrine-abstracts.org]

Abstract Hormon therapy of the female Kallmann’s Syndrome patient in the setting of a pulmonary embolism presents a challenge. [pagepress.org]

Case Report A 27 year old girl presented on November 25, 2014, in the outpatient clinic with secondary amenorrhoea for the last 4-5 years. [omicsonline.org]

• Weight Gain

  Rapid weight gain continues into adulthood; stature remains short and may be caused by growth hormone deficiency. [merckmanuals.com]

  Alternate-day GnRH therapy for ovarian hypofunction induced by weight loss: Treatment of six patients who remained amenorrhoeic after weight gain. Clin Endocrinol (Oxf) 1993;39:641-8. 7. Reindollar RH, Novak M, Tho SP, McDonough PG. [fertilityscienceresearch.org]

• Osteopenia

  Osteopenia MedGen UID: 148180 • Concept ID: C0747078 • Disease or Syndrome Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. [ncbi.nlm.nih.gov]

  HH including intense or frequent exercise, weight loss, psychological stress, and psychological disturbances. [5], [6], [7], [8] In addition to being infertile, women with HH suffer from conditions associated with a low estrogenic milieu, including osteopenia [fertilityscienceresearch.org]

  Features include emotional lability, poor gross motor skills, facial abnormalities (eg, a narrow bitemporal dimension, almond-shaped eyes, a mouth with thin upper lips and down-turned corners), and skeletal abnormalities (eg, scoliosis, kyphosis, osteopenia [merckmanuals.com]

  Bone density scan ( DXA ) to check for osteoporosis or osteopenia. [3] [2] Treatment [ edit ] Testosterone gel sachets, Testosterone undecanoate injection (Nebido), Human chorionic gonadotropin (hCG) injection, Menotropin injection (hMG). [en.wikipedia.org]

  • The drug raises T levels substantially in addition to improving other manifestations of HG such as osteopenia/osteoporosis and ADAM symptoms. ——————————————– 2011 3) www.ncbi.nlm.nih.gov/pubmed/22044663 BJU Int. 2011 Nov 1. [jeffreydachmd.com]

• Cryptorchidism

  We carried out a Pubmed search with the keywords “cryptorchidism”, “cryptorchid testes”, “testes descent”, “CHH”, “CPHD”, “hypopituitarism”, “Kallman”, “isolated HH or idiopathic HH”. [ijpeonline.biomedcentral.com]

  By the age of 3, he suffered 4 surgical procedures for bilateral cryptorchidism without improvement. Around the age of 8, dwarfism was recorded without further investigations. [umbalk.org]

  Testes are often small or cryptorchid. Testosterone levels may be low with high gonadotropin levels. [merckmanuals.com]

  Fertility, when desired, is achieved in most cases but cryptorchidism has a poor prognosis in males. The documents contained in this web site are presented for information purposes only. [orpha.net]

  Cryptorchidism, where one or both testicles do not descend into the scrotum. A separate lesson covers the details of this condition. Mumps, chemotherapy, and certain medications. [study.com]

Diagnosis [ edit ] Diagnosing KS and other forms of CHH is complicated by the difficulties in distinguishing between a normal constitutional delay of puberty or a case of KS/CHH. [27] [4] [28] The diagnosis is often one of exclusion found during the workup [en.wikipedia.org]

Diagnosis and Treatment After our usual workup, and the obvious diagnosis of hyopogonadal hypogonadism, treatment was started with HCG (human chorionic gonadotropin), an LH analog which stimulates testicular testosterone production. [jeffreydachmd.com]

• Polyps

  Other causes of outflow tract obstruction include cervical stenosis and obstructive fibroids or polyps. Polycystic ovary syndrome (PCOS) is the most common cause of hyperandrogenic chronic anovulation. [aafp.org]

[…] period up to approximately 21 full treatment days ] Number of dominant follicles with a mean diameter of ≥ 18mm [ Time Frame: From Day 10 of the treatment period up to approximately 21 full treatment days ] Maximum progesterone levels [ Time Frame: Treatment [clinicaltrials.gov]

Our patient had stored frozen semen samples and stopped rFSH treatment before the first attempt at assisted conception treatment. [edmcasereports.com]

Nonsurgical treatment of male infertility. Urol Clin North Am. 1994; 21 :531–548. [ PubMed ] [ Google Scholar ] 2. Hakim L, Oates RD. Nonsurgical treatment of male infertility: Specific therapy. In: Lipshulz LI, Howards SS, editors. [ncbi.nlm.nih.gov]

Basal serum inhibin B levels were slightly higher before transdermal estradiol treatment (phase 1) than during estrogen treatment (phase 2) in both subjects. [jeffreydachmd.com]

Prognosis KS is not a life threatening disease. With hormonal treatment, pubertal feminization or virilization occurs in all patients. Fertility, when desired, is achieved in most cases but cryptorchidism has a poor prognosis in males. [orpha.net]

PMID: 9829214 Prognosis Manara R, Di Nardo F, Salvalaggio A, Sinisi AA, Bonanni G, Palumbo V, Cantone E, Brunetti A, Di Salle F, D'errico A, Elefante A, Esposito F Hum Brain Mapp 2018 Jan;39(1):42-53. Epub 2017 Sep 30 doi: 10.1002/hbm.23806. [ncbi.nlm.nih.gov]

Discussion The prognosis of inducing ovulation in patients of HH is favorable though they require high doses of hMG. The baseline FSH and LH values do not predict an individual patient's response to hMG. [fertilityscienceresearch.org]

Ovulation induction can be achieved either with pulsatile GnRH therapy or alternatively with gonadotropin injections (hCG, FSH, hMG) given at set intervals to trigger the maturation and release of the egg for natural conception. [37] Prognosis [ edit [en.wikipedia.org]

Gametogenesis can be induced with either exogenous gonadotropin or pulsatile GnRH therapy, depending on the etiology. KEYWORD Hypogonadotropic hypogonadism - etiology - genetics - treatment [thieme-connect.com]

Of all the causes of infertility, HH is the least common etiology. [fertilityscienceresearch.org]

Causes [ edit ] There are a multitude of different etiologies of HH. [en.wikipedia.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]

Etiology KS is caused by impaired development of the olfactory system and disrupted embryonic migration of the GnRH-synthesizing neurons from the olfactory epithelium to the hypothalamic region of the brain. [orpha.net]

Summary Epidemiology The prevalence is estimated at 1/8,000 males and 1/40,000 females, but is probably underestimated. [orpha.net]

Keywords Adrenocorticotropic hormone; Cushing’s disease; Hypogonadotropic hypogonadism; Thyroid stimulating hormone Introduction Cushing’s disease is a rare endocrinal disorder with little epidemiological data available on the disease. [omicsonline.org]

Reversal is not always permanent and the precise genetic causes are not yet fully understood. [39] Epidemiology [ edit ] The epidemiology of Kallmann syndrome is not well understood. [en.wikipedia.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]

[…] described the phenotype and prevalence of CCDC141 mutations in idiopathic hypogonadotropic hypogonadism/Kallmann syndrome confirmed that inactivating CCDC141 variants cause normosmic idiopathic hypogonadotropic hypogonadism but not Kallmann syndrome. [24] Epidemiology [emedicine.medscape.com]

Covers the full spectrum of reproductive pathophysiology and disorders, from pregnancy and birth to reproductive aging. Includes the work of leaders in the field of reproductive endocrinology for guidance you can trust. [books.google.com]

AB - Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. [scholars.northwestern.edu]

Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations. Front Horm Res 2010;39:121–32. Crossref PubMed Google Scholar 22. Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, et al. [degruyter.com]

Pathophysiology Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. [emedicine.medscape.com]

"Kallmann Syndrome and Idiopathic Hypogonadotropic Hypogonadism: Background, Pathophysiology, Epidemiology". eMedicine. ^ a b Balasubramanian R, Crowley WF (March 2, 2017). "Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency". GeneReviews. [en.wikipedia.org]

More information Testosterone Deficiency (Primary Hypogonadism and Secondary/Hypogonadotrophic Hypogonadism) Prevention In some cases, hypogonadism is caused by genetic factors and cannot be prevented. [myvmc.com]

In one patient, isolated bioinactive luteinizing hormone (LH) was present as a result of a homozygous mutation in the LH beta subunit gene, which prevented binding of LH to its receptor. [emedicine.medscape.com]

Some people with KS/CHH will have their levels checked and may be prescribed extra vitamin D tablets or injections to try to prevent the condition getting worse. [en.wikipedia.org]

Aromatase inhibitors prevent this and lower E2 33, which in turn prevents feedback inhibition of GnRH and causes increased release, thereby raising serum testosterone concentrations as well as intra-testicular testosterone. [f1000research.com]

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]