Kallmann’s Syndrome : A Rare Case Report ABSTRACT : Background : KALLMANN SYNDRME (kal S), a Developmental Hypothalamic Dysfunction, resulting from defective Hypothalamic Gonadotropin-releasing Hormone (GnRH) synthesis and is seen in association with Hyposmia or Anosmia ( a deficiency of sense of smell ) due to olfactory bulb/tract hypoplasia or agenesis. Clinical Features of the syndrome are attributed to GnRH deficiency as well as underlying genetic defect. It is not unusual for congenital causes of hypogonadotropic hypogonadism , such as kallmann’s syndrome, to be diagnosed in young adults. The diagnosis of the syndrome is reliant on characteristic clinical features and magnetic resonance imaging revealing olfactory bulb/tract hypoplasia/agenesis. …show more content…
It is not unusual for congenital causes of hypogonadotropic hypogonadism , such as kallmann’s syndrome, to be diagnosed in young adults. Prevalence of the syndrome worldwide and in indian population Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. The prevalence of Kallmann’s syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. Key Words : IHH- isolated hypogonadotropic hypogonadism Kal S- kallmann’s syndrome CASE REPORT : 19 year old male (DOB-19/7/1992), born of non-consanguineous marriage, presented as an outpatient case to surgical opd with chief complaints of absence of secondary sexual characters, unbroken voice, headache. Patient was referred to endocrine clinic at the same centre where further workup of the case was done with subsequent follow up. Birth history of the case revealed full term normal vaginal home delivery without any prenatal/perinatal/postnatal complications. He …show more content…
As per the genetics of the syndrome, a number of associated non-reproductive,
HENNEKAM LYMPHANGIECTASIA SYNDROME ABSTRACT Hennekam Lymphangiectasia Syndrome is a rare autosomal recessive condition. Onset is usually in childhood. The prevalence is unknown but less than 50 cases have been reported in the literature. Incidence is about 1 in 1,00,000 and occurs in all ethnic groups. The syndrome is characterized by the association of lymphedema, intestinal lymphangiectasia, intellectual defecit and facial dysmorphism.
Fractured Clavicle Occurs in during difficult birth due to unequal movement of the upper extremities Abdomen: Normal Finding A. Shape Round, dome shaped and nondistended B. Umbilical Cord Two arteries, one vein, whitish gray color, odorless C. Bowel sounds Present 1-2 hours after birth Abnormal Abdomen: Definition A. Distension: Fullness of the abdomen above the umbilicus caused by ruptured viscus or tumors. B. Imperforate Anus Blockage of the anus or missing of the anus C. Meconium Ileus Bowel obstruction caused by thick abnormal meconium Genitalia: (complete female and male) Normal finding or Definition A. Female (labia, clitoris, meatus, edema, pseudo- menstruation) 2pts Labia majora covers the labia minora and clitoris and are usually edematous
Of course, the condition will most likely involve a heart problem, which is discovered at birth, along with a webbed neck, chest deformities, many birth marks, also known as café-au-lait spots, and a short stature. The features of this syndrome are not fully known, considering the fact that there are numerous characteristics and no two infected individuals have the same exact features. Like in most other disease cases, there are lists of more minor symptoms that can occur in an individual. In infants and newborns, feeding problems are present, due to a poor sucking reflex. Behavioral problems and developmental delays can occur, which causes the individual to achieve milestones slower, such as sitting and walking.
Stag Performance Testosterone is an extremely important male sex hormone that is responsible for the growth and physical development of the body. A drop in testosterone levels can lead to several health problems, including loss of muscle mass, increased visceral fat, erection problems, cracking of the voice, loss of libido, emotion problems, increased body & facial fat and lack of motivation. Being a critical hormone, it regulates a wide range of vital bodily functions. Therefore, the body requires a large amount of testosterone to maintain a healthy body and neurological function.
Case Study 1 – The Endocrine System Christina D’Amico University of Saint Joseph Abstract A fifteen-year-old boy with many hormonal abnormalities starting at the age of eleven suffered from joint pain and swelling along with poor bone growth and development. He broke his left hip and had low levels of testosterone and high levels of growth hormone resulting in gigantism and later acromegaly.
B. Hashimoto’s disease is much more common in women than men. 1. Wilmar Wiersinga of the Department of Endocrinology & Metabolism, Academic Medical Center, University of Amsterdam, in The Netherlands states that “The incidence of autoimmune hypothyroidism is about 350 cases/100,000/year for women and 60 cases/100,000/year for men in iodine-sufficient regions and 44 (females) and 12 (males) per 100,000 per year in iodine-deficient areas.” 2. Although the disease often occurs in adolescent or young women, it more commonly appears between 30 and 50 years of age.
Fibromyalgia Kandi K. Exposito Everest College Pharmacy Technician Course MOD E Fibromyalgia is described as inflammation of the fibrous or connective tissues of the body (Larson, 2002). The connective tissues include the muscles, joints, ligaments, and tendons. The primary characteristics of this condition include widespread pain, fatigue and multiple tender points. Individuals diagnosed with fibromyalgia may also suffer from sleep disturbance, headache, bowel disturbances, morning stiffness, painful menstrual periods, numbness or tingling in the extremities, restless leg syndrome, temperature sensitivity, or sensitivity to loud noises or bright light. Fibromyalgia is considered to be a rheumatic condition and has been categorized
Christina Milian lost her new born nephew, a day after he was born, and shared this fateful news on her facebook page. Her nephew Richie Bear battled an uncommon birth defect, and fought till he could no longer make it. He was diagnosed with omphalocele during pregnancy, a condition where an infant 's intestine or other abdominal organs are formed outside the body.
Evidence-Based Clinical Practice Paper J.D. is a 62 year old divorced Caucasian female. Patient is a reliable historian. She is allergic to Lisinopril. She currently has a desk job at a local call center. She went through menopause at age 50.
It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person
Case Scenario 6 – Caesarean section – patient choice Delivery by a Caesarean section has become more common over the last several years for a number of various reasons. The old saying “once a c-section, always a c-section”, however, no longer is true. Many women who have had a baby by Caesarean section could deliver their next child vaginally if they so choose. In this case scenario, clinicians are confident that the labour would progress without a complication and that there would not be a need for a Caesarian section. However, the clinician’s opinion conflicts with the mother’s wish to have a C-section.
The first description of the etiology and surgical approach to Hirschsprung 's disease was by Dr Ovar Swenson in 1948[1]. Swenson 's operation was difficult to carry out in early infancy also extensive dissection of the pelvis occasionally caused complications, therefore several methods including those proposed by Duhamel[2], Soave[3], and their modifications have been devised aiming at minimizing pelvic dissection, preserving the rectal wall and maintaining rectal sensation. Many problems, however, appeared due to leaving aganglionic tissues for example, fecaloma formation in the residual blind anterior rectal pouch [4] and functional obstruction of the pull through caused by the Soave cuff [5, 6].
First discovered in 1935 by Stein and Leventhal, polycystic ovarian syndrome (PCOS) is a complex endocrine and metabolic disorder that is characterized by menstrual irregularity, subfertility and infertility, clinically obvious hyperadrogenism, and metabolic dysfunction in women (Azziz, 2015). Although the etiology of this complex condition is unclear, the prevalence is about 20-40% in women who have mothers and sisters with PCOS, strongly suggesting a genetic association (Azziz, 2015). B.L. presented to the clinic on 10/15/15 with a chief complaint of irregular menstrual cycle and seeking a referral to her OB-GYN for further evaluation and management. B.L. voiced concerns regarding her menstrual cycle and inability to conceive for the last year. Being a newlywed, she found this particularly distressing as she and her husband were hoping to start a family soon after they were married.
Kamasutra Male Enhancement Low libido and low sex drive is the common problem in men who are over the age of 30. This is because male hormones gradually starts to decrease and lead to various sexual problems. All men as they age experience a reduction in testosterone levels. Some of the problems include erectile dysfunction, premature ejaculation, low libido, low sex drive, depression, weight gain and poor performance in bed. All these problems have an adverse affect on the intimate relationships.
Growth hormone insensitivity (GHIS) can be defined as the clinical and biochemical features of IGF-I deficiency associated with normal or elevated GH secretion. Laron syndrome is considered the classical form of GHIS [Savage et al., 2001]. First described by Laron et al as a new entity in 1966, Laron syndrome (MIM 262500) is an autosomal recessive disorder caused by mutations of the growth hormone receptor gene (GHR) [Laron and Klinger 1994].