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]

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]

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

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

Available from: Sir, A 55-year-old unmarried woman presented with a history of clear fluid-filled lesions all over the body for one month. [ijdvl.com]

• Splenomegaly

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

• Cyanosis

  All patients with Kallmann syndrome have either anosmia or severe hyposmia and may exhibit symptoms of associated conditions including those of congenital heart disease (eg, fatigue, dyspnea, cyanosis, palpitations, syncope) or neurologic manifestations [emedicine.medscape.com]

• Skin Lesion

  Keywords Hypogonadotropic hypogonadism; Microphallus; Kallmann syndrome Case Report A 27 year old white male presented to a family medicine clinic with complaint of a changing skin lesion that was a melanoma in situ. [omicsonline.org]

• Osteopenia

  Phenotypes Anosmia ; Autosomal recessive inheritance ; Azoospermia ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Gonadotropin deficiency ; Gynecomastia ; Hypogonadotrophic hypogonadism ; Hypoplasia of the uterus ; Micropenis ; Osteopenia [mousephenotype.org]

  Affiliated tissues include pituitary, olfactory bulb and uterus, and related phenotypes are osteopenia and delayed skeletal maturation Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous [malacards.org]

  Osteopenia was equally severe in men with immature and mature bone ages, suggesting that abnormal bone development plays an important role in the osteopenia of men with idiopathic hypogonadotropic hypogonadism. FULL TEXT [annals.org]

  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]

  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]

• Arthritis

  […] elderly with onset 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 [ijdvl.com]

• Withdrawn

  […] symbols: AXOR12, GPR54, HOT7T175 ) Mouse Orthologs Kiss1r (Withdrawn symbols: Gpr54 ) Source OMIM:614837 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse [mousephenotype.org]

• Primary Amenorrhea

  Autosomal recessive inheritance ; Azoospermia ; Cryptorchidism ; Decreased testicular size ; Delayed skeletal maturation ; Gonadotropin deficiency ; Gynecomastia ; Hypogonadotrophic hypogonadism ; Hypoplasia of the uterus ; Micropenis ; Osteopenia ; Primary [mousephenotype.org]

  Table 4 3, 6, 15 includes the differential diagnosis of primary amenorrhea. [aafp.org]

  Figure 4: Linear basement membrane zone band is seen on the epidermal side ('roof') of the split Click here to view The patient also complained of primary amenorrhea. [ijdvl.com]

  Males exhibit a lack of muscular development and failure of the voice to deepen, whereas females typically exhibit minimal to a complete lack of breast development coupled with primary amenorrhea. [omicsonline.org]

  At age of 15 she had primary amenorrhea thus she was referred for an endocrine check-up. [umbalk.org]

• Microphallus

  As a result, he had a full-skin exam and was found to have a microphallus, undescended testes, and minimal pubic hair distribution. He had a normal sense of smell. [omicsonline.org]

  […] those of congenital heart disease (eg, fatigue, dyspnea, cyanosis, palpitations, syncope) or neurologic manifestations (eg, color blindness, hearing deficit, epilepsy, paraplegia). [28] Absent or incomplete puberty Some male patients may present with microphallus [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]