* Well-referenced to allow easy look up of anything related to menopause * Presents the latest thinking on basic science and clinical topics * Exposes what the current gaps in our knowledge are * Presents current expert opinions [books.google.com]

It is unclear whether the somatic malformations and ovarian failure are caused by ostensibly pleiotropic gene(s) or closely linked genes. [1] In the present case, a clinical diagnosis of Turner's syndrome was made initially as patient presented with short [jhrsonline.org]

We report here a case and reviewed all available literature to highlight presentations, karyotype abnormalities and gonadal abnormalities in these patients. [ijem.in]

• Infertility

  New chapters include an expansion of female infertility and fertility, preimplantation diagnosis and screening, osteoporosis, and contraception and sterilization. [books.google.com]

  The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001 ; 29 : 279 –86. 11. Sadeghi-Nejad H, Oates RD. The Y chromosome and male infertility. [cambridge.org]

  Female Infertility Sequencing Panel with CNV Detection that also includes the following genes: HFE FOXL2 STAR WT1 ARL6 MKKS TTC8 TRIM32 CYP11A1 GALT More info about this panel Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV [mendelian.co]

  Abstract Hypergonadotropic ovarian failure is a common cause of female infertility. It is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis (OD). [paolobeckpeccoz.it]

  Thomas Michael Price, MD Associate Professor, Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Director of Reproductive Endocrinology and Infertility Fellowship Program, Duke University Medical Center Thomas [emedicine.medscape.com]

• Virilization

  Table 2 Malignancy risk based upon type of gonadal dysgenesis, location of gonad, gross pathology, and immunohistochemistry Degree of virilization Normally virilized males Mild undervirilization Ambiguous genitalia Location of gonad Scrotal gonad with [ijpeonline.biomedcentral.com]

  Some have had hilus cell hyperplasia and hilus cell tumors with the usual associated virilizing effects. Epithelial tumors are extremely rare, but of these mucinous tumors occur more frequently than serous. [humpath.com]

  Hyperthecosis can also cause virilization, which manifests as clitoromegaly, temporal balding, and deepened voice change. See Polycystic Ovarian Syndrome for an in-depth discussion of this entity. [emedicine.medscape.com]

• Thyroid Nodule

  MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID [books.google.com]

• Goiter

  MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND [books.google.com]

• Surgical Procedure

  If tumor markers are positive, a staged surgical procedure (laparotomy instead of laparoscopy) is indicated. [ijpeonline.biomedcentral.com]

• Failure to Thrive

  It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most [nectarmutation.org]

• Hirsutism

  Stay abreast of the newest knowledge in reproductive endocrinology, including endocrinology of sexual behavior and gender identity; genetic pathways that control gonadal development and sex differentiation; management of PCOS and hirsutism; management [books.google.com]

  Another cause of hirsutism is the rare late-onset 21-hydroxylase deficiency, which is caused by mutations in the 21-hydroxylase gene that result in excessive 17-hydroxyprogesterone levels. [emedicine.medscape.com]

  Between 50% and 80% cases Other less frequent symptoms Patients with BMP15 gene alterations may also develop some of the following symptoms and phenotypes: Commonly - More than 50% cases Delayed puberty Not very common - Between 30% and 50% cases Hirsutism [mendelian.co]

  Cohen BN, Givens JR, Wiser WL, et al: Polycystic ovarian disease, maturation arrest of spermatogenesis and Klinefelter’s syndrome in siblings of a family with familial hirsutism. Fertil Steril 26: 1228, 1975 PubMed Google Scholar 95. [link.springer.com]

• Osteoporosis

  New chapters include an expansion of female infertility and fertility, preimplantation diagnosis and screening, osteoporosis, and contraception and sterilization. [books.google.com]

  […] prototypic GD is Turner syndrome–45, X0, which occurs in 1:2-7000 births Clinical Short stature, webbed neck, cubitus valgus, micrognathia with high arched palate, epicanthal folds, lymphedema of hands and feet, aortic coarctation, renal malformation, osteoporosis [medical-dictionary.thefreedictionary.com]

• Suggestibility

  Access full-color images and more than 90 online-only topics at Expert Consult, as well as EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms. [books.google.com]

  It is suggested that these are the main manifestations of a previously unreported autosomal-recessive syndrome. [documents.tips]

  These data also suggested that SRY may play a role in rete testis formation. 46,XX pure gonadal dysgenesis Patients with 46,XX pure gonadal dysgenesis, as those with Turner syndrome, only rarely have gonadal tumors. [humpath.com]

  The familial presentation suggested a genetic origin, and candidate genes were screened for mutations. A heterozygous nonconservative substitution in the pro region of BMP15 (Y235C) was identified in both sisters but not in 210 control alleles. [paolobeckpeccoz.it]

  NR0B1 aka DAX1) Hypogonadotropic Hypogonadism Panel Forms and Documents Test Details Clinical Utility: To determine the etiology of primary adrenal insufficiency in a male, particularly in the presence of HH, an X-linked family history, and/or symptoms suggestive [genedx.com]

• Meningism

  Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere. [books.google.com]

To facilitate prompt and accurate diagnostic workup, obtaining a thorough history and performing a detailed physical examination is essential. [47] In the differential diagnosis of primary or secondary amenorrhea, the most important step in diagnosis [emedicine.medscape.com]

Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients. [ijpeonline.biomedcentral.com]

• Abnormal Thyroid Function Test

  THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

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]

Love1 TWI, Porter GD (1977): Cardiomyopathy after gonadotrophin treatment. Br Med J 1511. Mdller P, Lunde P, Hovig T, Nitter-Hauge S (1979): Familial cardiomyopathy. [documents.tips]

HS6ST1, IL17RD, KISS1, KISS1R, LEP, LEPR, LHB, LHCGR, NR0B1, NR5A1, NSMF, POLR3B, PROK2, PROKR2, PROP1, SEMA3A, SEMA3E, SOX10, SPRY4, TAC3, TACR3, WDR11 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment [genedx.com]

Long-term prognosis in galactosaemia: results of a survey of 350cases J Inherit Metab Dis 1990 ; 13 : 802-818 [cross-ref] Wood C. Mumps and the menopause Br J Sex Med 1975 ; 2 : 19 Zinn A.R., Ross J.L. [em-consulte.com]

The prognosis is favorable when the gonadoblastoma is associated with dysgerminoma, but unfavorable when associated with other germ cell tumors including yolk sac tumors, seminomas, immature teratomas, embryonal carcinomas, or choriocarcinomas [ 11 ]. [ijpeonline.biomedcentral.com]

[…] of HH, an X-linked family history, and/or symptoms suggestive of a contiguous gene deletion syndrome To determine etiology of 46,XY gonadal dysgenesis and ambiguous genitalia Carrier testing for females with a family history of X-linked AHC Prenatal [genedx.com]

It is often associated with a hypothalamic hypogonadotropic etiology. Premature ovarian failure can be idiopathic, secondary to chemotherapy or radiation therapy, or autoimmune in origin. [emedicine.medscape.com]

It is unlikely that nocturnal melatonin can be implicated in the etiology of the GnRH deficiency of Kallmann's syndrome (KS), because this condition is caused by defective neuronal migration in embryonic life [10]. [wikigenes.org]

Simpson JL: Disorders of Sexual Differentiation: Etiology and Clinical Delineation. New York: Academic, 1976 Google Scholar 2. Simpson JL: Gonadal dysgenesis and sex chromosomal abnormalities. [link.springer.com]

Viswanathan V, Eugster EA (2011) Etiology and treatment of hypogonadism in adolescents. Pediatr Clin North Am 58(5):1181–1200 PubMed CrossRef 41. [springermedizin.de]

The book is divided into four sections: Basic Biology, Epidemiology, Menopausal Systems Pathophysiology, and Intervention. [books.google.com]

View Article PubMed Google Scholar Dieckmann KP, Pichlmeier U: Clinical epidemiology of testicular germ cell tumors. World J Urol. 2004, 22: 2-14. 10.1007/s00345-004-0398-8. [ijpeonline.biomedcentral.com]

The book is divided into four sections: Basic Biology, Epidemiology, Menopausal Systems Pathophysiology, and Intervention. [books.google.com]

Pathophysiology of impaired ovarian function in galactosemia Hum Reprod Update 2006 ; 12 : 573-584 [cross-ref] Franchi-Razgui P., Rousselot P., Espie M., and al. [em-consulte.com]

The remarkable neurological diseases with hypogonadism should not basically be regarded as coincidental findings, but possibly related to an intrinsic pathophysiological association. [springermedizin.de]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

[…] and Sexual Development OTHER SETS BY THIS CREATOR 5 terms Step 2 CS 50 terms Green Card ambulatory 5 terms Step 2 secrets acid base and electrolytes 14 terms Potassium step up to medicine THIS SET IS OFTEN IN FOLDERS WITH... 43 terms Childhood injury prevention [quizlet.com]

In patients with XY CGD, gonadal biopsy has no role, as these patients ultimately require gonadectomy to prevent development of a malignancy. Evidence quality: low Strength of recommendation: strong b. [ijpeonline.biomedcentral.com]

Asherman syndrome occurs after an overzealous curettage of the endometrial lining, which results in adhesions or synechiae that prevent the endometrium from responding to estradiol. [emedicine.medscape.com]