Rather than focusing on excessive theoretical details, each chapter presents a unique clinical vignette or scenario, the relevant aspects of which are followed throughout the entire chapter, correlating specific fertility issues with clinical findings [books.google.com]

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

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]

[…] and the mitral cells present in the olfactory bulb. [emedicine.medscape.com]

Presentation In this study, micropenis and/or cryptorchidism were present in all of the boys in whom the information was available except one. [journals.plos.org]

• Infertility

  […] working to treat the infertile male. [books.google.com]

  Of course, our results do not disprove that the c.290-13A/ C>G, p.I172N, p.P30L and p.V281L mutations in the CYP21A2 gene are involved in infertility. Further research is necessary in order to clarify whether CAH is involved in infertility. [bjmg.edu.mk]

  This case highlights the value of obtaining a detailed history and performing a thorough physical examination as this patient’s risk of cancer, fractures, and infertility could have been dramatically reduced with an earlier diagnosis. [omicsonline.org]

  Men and women with CHH frequently seek treatment for infertility after hypogonadism therapy. [ncbi.nlm.nih.gov]

• Anemia

  […] after 60 years and a peak incidence at 80 years and older. [1] It may be associated with other dermatoses such as lichen planus, vitiligo and psoriasis and other autoimmune conditions such as primary biliary cirrhosis, rheumatoid arthritis, pernicious anemia [ijdvl.com]

  CONCLUSIONS: Androgen deficiency was quite common in men presenting with ED and correlated significantly with age, uncontrolled diabetes, hypercholesteremia, and anemia. [reprosrx.com]

  Depression, fatigue, low energy, poor concentration, mild anemia and low bone mineral density with osteoporotic fractures may also occur ( 2, 3, 6, 7, 8, 9, 10 ). [edmcasereports.com]

  […] 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 for osteoporosis or unexplained anemia [bcmj.org]

  However, a potential negative effect of chronic intermittent anemia on gonadotropins secretion cannot be excluded, even though our patients were on regular transfusion regimens (pre- transfusional Hb level 9.0 ± 0.3 g/dl). [mjhid.org]

• Precocious Puberty

  E29.8 Other testicular dysfunction E29.9 Testicular dysfunction, unspecified E30 Disorders of puberty, not elsewhere classified E30.0 Delayed puberty Constitutional delay of puberty Delayed sexual development E30.1 Precocious puberty Precocious menstruation [apps.who.int]

  Second, exposure to high testosterone concentrations may promote GnRH neuron maturation and activate HPGA function as posited by Raivio et al. [6] This theory is also supported by the facts that central precocious puberty may be induced in patients with [ajandrology.com]

• Malnutrition

  […] puberty* Chronic illness Chronic liver disease Chronic renal insufficiency Diabetes Immunodeficiency Inflammatory bowel disease Thyroid disease Severe depression or psychosocial stressors Cranial radiation Excessive exercise Excessive weight loss or malnutrition [aafp.org]

  Systemic diseases such as malnutrition, depression, nephrotic syndrome and chronic diarrhea were excluded. In all IHH patients, 203 were KS and 151 were nIHH. [ajandrology.com]

• Hypertension

  Cushing’s disease is rare; therefore, patients should only be screened when characteristic signs and symptoms (e.g., striae, buffalo hump, significant central obesity, easy bruising, hypertension, proximal muscle weakness) are present. 21, 22 View/Print [aafp.org]

  Associated anomalies include cleft palate, neurosensory hearing loss, congenital heart defect, intestinal malrotation, renal agenesis, hypertension, mental retardation, color blindness, and other defects. [icd10data.com]

  More patients in the testosterone treatment arm of the study had hypertension or dyslipidemia, thereby predisposing them to cardiovascular disease and biasing the study outcome.[ 11 ] Meta-analyses exploring a possible connection between testosterone [bcmj.org]

  Low concentrations of these endogenous androgens have been linked with insulin resistance, which is an important upstream driver for metabolic abnormalities such as hyperglycemia, hypertension, or hyperlipidemia, and increased cardiovascular risk. [reprosrx.com]

  State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences and School of Basic Medicine, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100005, China 4 Division of Endocrinology, Diabetes, and Hypertension [ajandrology.com]

• Fracture

  […] needed to assess whether fracture rates are lower in osteoporotic hypogonadal men treated with testosterone. [bcmj.org]

  Cortical bone density was at least 2 SD below normal in 16 of 23 men, and 8 men had spinal bone densities below the fracture threshold of 80 to 100 mg K 2 HPO 4 /cm 3. [annals.org]

  This case highlights the value of obtaining a detailed history and performing a thorough physical examination as this patient’s risk of cancer, fractures, and infertility could have been dramatically reduced with an earlier diagnosis. [omicsonline.org]

  Depression, fatigue, low energy, poor concentration, mild anemia and low bone mineral density with osteoporotic fractures may also occur ( 2, 3, 6, 7, 8, 9, 10 ). [edmcasereports.com]

  Although asymptomatic, patients have a greater fracture risk. Androgen or estrogen replacement therapy may prevent or ameliorate osteoporosis in men or women, respectively. [emedicine.medscape.com]

[…] 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]

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]

This case-based guide is written from the clinician's perspective, dealing with a defined male infertility problem, tracing the actual clinical pathway arriving at the diagnosis, and discussing the treatment options and the likely outcome. [books.google.com]

In general, treatment options most require lifelong treatment but for the rare cases of reversal [ 5 ]. [omicsonline.org]

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]

Gilbaugh JH, III, Lipshultz LI: Nonsurgical treatment of male infertility. Urol Clin North Am 1994;21:531-548 Google Scholar 2. Hakim L, Oates RD: Nonsurgical treatment of male infertility: Specific therapy. [link.springer.com]

Treatment and prognosis Treatment is primarily aimed at restoring normal pubertal development and in some case normal fertility. The former can be achieved by administration of exogenous sex steroids, appropriate to the gender of the patient. [radiopaedia.org]

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]

Some etiologies, such as autosomal dominant or X-linked Kallmann syndrome, raise the question of hereditary transmission, leading to increasing demands for genetic counseling and monitoring of medically assisted pregnancies. [ncbi.nlm.nih.gov]

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

Our case reports suggest that maybe screening for hypogonadism in all HIV-infected men might help to understand its etiology. [edmcasereports.com]

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]

Relevant External Links for FGF8 Genetic Association Database (GAD) FGF8 Human Genome Epidemiology (HuGE) Navigator FGF8 Atlas of Genetics and Cytogenetics in Oncology and Haematology: FGF8 No data available for Genatlas for FGF8 Gene Decreased FGF8 signaling [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]

[…] 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]

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]

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]

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]

Seminara SB, Hayes FJ, Crowley WF Jr (1998) Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations. [link.springer.com]

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]

Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. Endocr Rev 1998 ;19: 521 - 539 3. Quinton R, Duke VM, Robertson A, et al. [nejm.org]

I have Kallmann syndrome, which is a condition that prevents puberty from starting and is also associated with a lack of sense of smell (anosmia) [imgur.com]

Early intervention can prevent low bone density and related complications, and also provides the opportunity for early family planning. [dnatesting.uchicago.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]

[…] accordance with Regulation (EC) No 141/2000 of 16 December 1999, the COMP adopted a positive opinion on 8 December 2016 recommending the granting of this designation. the seriousness of the condition; the existence of alternative methods of diagnosis, prevention [ema.europa.eu]

AHH thus prevents the establishment of gonadotropin secretion at puberty, or its post-pubertal maintenance. [em-consulte.com]