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Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis. A range of other physical symptoms affecting the face, hands and skeletal system can also occur.
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Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high. Its pathogenesis has been linked to dysfunctional G Proteins. Pseudohypoparathyroidism is a very rare disorder, with estimated prevalence between 0.3 and 1.1 cases per 100000 population depending on geographic location.
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Complete androgen insensitivity syndrome (CAIS) is an AIS condition that results in the complete inability of the cell to respond to androgens. As such, the insensitivity to androgens is only clinically significant when it occurs in individuals who are exposed to significant amounts of testosterone at some point in their lives. The unresponsiveness of the cell to the presence of androgenic hormones prevents the masculinization of male genitalia in the developing fetus, as well as the development of male secondary sexual characteristics at puberty, but does allow, without significant impairment, female genital and sexual development in those with the condition.
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Mild androgen insensitivity syndrome (MAIS) is a condition that results in a mild impairment of the cell's ability to respond to androgens. The degree of impairment is sufficient to impair spermatogenesis and / or the development of secondary sexual characteristics at puberty in males, but does not affect genital differentiation or development. Female genital and sexual development is not significantly affected by the insensitivity to androgens; as such, MAIS is only diagnosed in males. The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair.
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Shashank R. Joshi is an Indian endocrinologist, diabetologist and medical researcher, considered by many as one of the prominent practitioners of the trade in India. He was honoured by the Government of India, in 2014, by bestowing on him the Padma Shri, the fourth highest civilian award, for his services to the field of medicine. He is a part of the COVID-19 Task Force for the state of Maharashtra, India.
To date, at least 25 different genes have been implicated in causing gonadotropin-releasing hormone (GnRH) deficiency conditions such as Kallmann syndrome (KS) or other forms of congenital hypogonadotropic hypogonadism (CHH) through a disruption in the production or activity of GnRH. These genes involved cover all forms of inheritance, and no one gene defect has been shown to be common to all cases, which makes genetic testing and inheritance prediction difficult.
Sanjay Kalra is an Indian endocrinologist working at Bharti Hospital, Karnal, Haryana. Kalra is the Immediate Past President of Endocrine Society of India and Vice President of South Asian Federation of Endocrine Societies. He also serves on the executive council of the Research Society for Study of Diabetes in India. He has over 1000 PubMed indexed articles to his name, and has fostered bilateral and multilateral links between various Afro Asian countries in the field of endocrinology. He has developed the terms Glucocrinology and Lipocrinology. and the Gluco Coper tool to assess coping mechanisms. Winner of the DAWN Award (2009). He has also published the concepts of diabetes fatigue syndrome, euthymia in diabetes, quaternary prevention in endocrinology, and quinary prevention.
Eprotirome is a thyromimetic drug that has been investigated for the treatment of dyslipidemia. A Phase III trial in humans was discontinued after the drug was found to have negative effects on cartilage in dogs.
References
- ↑ Jameson, J. Larry (1999). Hormone Resistance Syndromes. Springer Science & Business Media. p. 41. ISBN 9781592596980 . Retrieved 8 November 2017.
- ↑ Deshmukh V (2012). "Images in endocrinology: Archibald's metacarpal sign". Indian J Endocrinol Metab. 16 (3): 487–8. doi: 10.4103/2230-8210.95760 . PMC 3354880 . PMID 22629539.
- ↑ Archibald’s sign | Signs and Syndromes
- ↑ Deshmukh V (2012). "Images in endocrinology: Archibald's metacarpal sign". Indian J Endocrinol Metab. 16 (3): 487–8. doi: 10.4103/2230-8210.95760 . PMC 3354880 . PMID 22629539.
