Kallmann’s Syndrome : A Rare Case Report
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,
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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
A 20 yr male patient presented to this hospital with a complaint of progressive distension of abdomen with ascites and bilateral non pitting type of pedal oedema. Incidentally he is the only one child to his parents of a non- consanguineous marriage with no history of radiation exposure , major illness during pregnancy or bad obstetric history. No other family members had similar phenotypic features.
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.
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.
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
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
Major symptoms caused by CES effect the eyes (either bilateral or unilateral colobama), ears (crimped appearance and ear tags), craniofacial region (malformations of the skull and face), anal region (anal atresia and other malfunctions around the area), heart, and the kidneys (underdevelopment or absence of kidneys). Shorter stature and insufficient levels of growth hormones are a common symptom as well. Rarer malformations can effect almost every other organ. Behavioural problems can occur, but are not characteristic of CES.
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.
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.
Currently the most accepted hypothesis is a vascular disruption causing a hypoxic/ischemic insult to the brainstem in the first trimester23, 24. This can be caused by various teratogens evoking uterine contractions. The following teratogens have been described including: gestational hyperthermia 25, 26, chorionic villus sampling 27, abuse of benzodiazepines 28, alcohol 25,cocaine29, thalidomide 30, ergotamine 31 or self-induced abortion – misoprostol 32. Hypoplasia or aplasia of the nuclei can also be caused by genetic mechanisms 1, but because the majority of Moebius syndrome cases are sporadic, genetics play only a minor role. So far three different chromosomal regions for familial Moebius syndrome have been reported: MBS1 (OMIM 157900, 13q12.2-q13) 33, 34, MBS2 (OMIM 601471, 3q21-q22) and MBS3 (OMIM 604185, 10q21.3-q22.1) 35, 36.
The first description of the etiology and surgical approach to Hirschsprung 's disease was by Dr Ovar Swenson in 1948. 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, Soave, 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  and functional obstruction of the pull through caused by the Soave cuff [5, 6].
She is here today for viability. On ultrasound, there is a live fetus whose crown-rump length is consistent with menstrual dates. There was no evidence of a subchorionic hemorrhage. We do continue to see a simple cyst on the left ovary measuring 1.6 x 1.9 cm. I again had a long discussion with Sarah today.
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.