Elder Sibling Research Articles

Coping Mechanisms and Parental Relationship in the Families of a Child with Autism Spectrum Disorder

Autism Spectrum Disorder (ASD) is a pervasive developmental disorder, which, with increased awareness, is now diagnosed early and with greater accuracy in India. This study aims to assess the coping mechanisms and parental relationship in families with a child having ASD. In depth interviews were conducted for 10 families with 4 members each (n = 40). The interviews contained questions for investigating the coping mechanisms, relationship between the parents and the sibling of the child with ASD, separately interviewing the mother, father and the typically developing sibling. The key findings of the interview suggested that the families depended on household help and gathering information on the internet, which, instead of serving as the coping mechanism it was intended to be, led to increased stress for the parents. Other methods included advice and help from professionals and spiritual methods like reading scriptures, family support and the support of the society. The acceptance of the diagnosis and general optimism, along with having specific responses for aberrant behavior defined by the professional were found to be the most effective coping mechanisms for the families. The relationship between parents was stressed in almost all cases, but the families which accepted the diagnosis early and sought the help of professionals, consequently, had a much better and complementary relationship. The families also relied on the typically developing sibling for the care of the autistic child. The relationship between the sibling and the child with ASD was close and the elder sibling, if female, also took on a maternal role in some cases in the caretaking of the child. In the case of male elder sibling, the relationship was close but there was lesser delegation of responsibility for the autistic child by parents.

INTRODUCTION

Cecil Bisshop Harmsworth (1869–1948) was the third brother of a large, famous and influential family. His elder siblings were Alfred Charles William Harmsworth and Harold Sidney Harmsworth. These two self-made men – Lords Northcliffe and Rothermere, as they became – were amongst the most powerful and notorious press proprietors of their age. Both of them, Alfred especially, were brilliant and energetic, but they were not exactly well liked. By contrast, Cecil was an able person who had, by normal standards, a successful career as a Liberal MP and junior minister, and yet never acquired – and indeed never aspired to attain – the high profile of his brothers. If he was overshadowed, though, he had an important gift that they lacked: ‘a genius for friendship’. It is related that, before he was elected to Parliament, Cecil was invited to the terrace of the House of Commons and made a very good impression on those he met. Supposedly, Northcliffe, when informed of this by one of his journalists, replied sardonically: ‘Oh, I understand. They were delighted to meet a human Harmsworth.’

Teaching Video Neuro Images : Vertical supranuclear ophthalmoparesis

A 30-year-old man presented with 10 years of progressive cognitive decline (poor academic performance followed by forgetfulness and calculation and visuospatial difficulties), 5 years of gait and limb ataxia and dysarthria, and 3 years of dysphagia. His 2 elder siblings had similar symptoms and died in their 20s. Examination revealed splenomegaly, global cognitive impairment, brisk gag reflex, pancerebellar ataxia, bipyramidal signs, and vertical saccade paresis (video on the Neurology ® Web site at [Neurology.org][1]). Vertical pursuit was preserved. Bone marrow aspirate and trephine biopsy revealed non-Gaucher-type storage foam cells (figure). Considering the diagnosis of Niemann-Pick C, he was treated symptomatically. Vertical supranuclear ophthalmoparesis is a red flag suggestive of Niemann-Pick C in young-onset dementia.1,2 [1]: http://neurology.org/lookup/doi/10.1212/WNL.0000000000002442

Early Diagnosis and Hematopoietic Stem Cell Transplantation for IL10R Deficiency Leading to Very Early-Onset Inflammatory Bowel Disease Are Essential in Familial Cases.

Alterations of immune homeostasis in the gut may result in development of inflammatory bowel disease. A five-month-old girl was referred for recurrent respiratory and genitourinary tract infections, sepsis in neonatal period, chronic diarrhea, perianal abscess, rectovaginal fistula, and hyperemic skin lesions. She was born to second-degree consanguineous, healthy parents. Her elder siblings were lost at 4 months of age due to sepsis and 1 year of age due to inflammatory bowel disease, respectively. Absolute neutrophil and lymphocyte counts, immunoglobulin levels, and lymphocyte subsets were normal ruling out severe congenital neutropenia and classic severe combined immunodeficiencies. Quantitative determination of oxidative burst was normal, excluding chronic granulomatous disease. Colonoscopy revealed granulation, ulceration, and pseudopolyps, compatible with colitis. Very early-onset colitis and perianal disease leading to fistula formation suggested probability of inherited deficiencies of IL-10 or IL-10 receptor. A mutation at position c.G477A in exon of the IL10RB gene, resulting in a stop codon at position p.W159X, was identified. The patient underwent myeloablative hematopoietic stem cell transplantation from full matched father at 11 months of age. Perianal lesions, chronic diarrhea, and recurrent infections resolved after transplantation. IL-10/IL-10R deficiencies must be considered in patients with early-onset enterocolitis.

Heredo-Familial Expression of Ametropia among Siblings of a Nigerian Family

A case series of 4 siblings who had auto-refraction and subjective refraction, refinement was with 0.25 Jackson Cross Cylinder. Presenting complaint was either blurring of distant vision or missing eye glasses. The eldest sibling started using eye glasses at 15 years of age while the other siblings commenced much earlier. Presenting visual acuities in 7 eyes ranged from 6/9 to 6/18, one eye of the eldest sibling had visual acuity of 6/36. Spherical errors had gender bias with the males more likely to be hypermetropic and the females more likely to be myopic. However, cylinder powers and axes were closely related in all siblings. It was concluded that heredo-familial traits could partly account for some of the striking similarities noted in the outcomes of refraction among the siblings.

Factors affecting immunization among children of rural population of block Malpura, district Tonk, Rajasthan, India

Background: Immunization is a highly cost effective way of improving child survival, however it is estimated that every year, at least 27 million children worldwide do not receive the basic package of immunizations. In India, immunization services are offered free in public health facilities, but the immunization rate remains low. The Routine Immunization schedule includes BCG, OPV, DPT, hepatitis B, and measles vaccines. Now heamophillus influenza B, DPT and hepatitis B are given combined as a pentavalent vaccine since September 2014 in Rajasthan. Objectives of the study are, to determine immunization coverage status of infants and to know about socio-demographic factors influencing infant immunization. Methods: A cross-sectional study included 210 caretakers and infants of 12-23 months old selected by applying the 30 × 7 cluster sampling method in block Malpura during the period of March 2015 to April 2015. Only one infant was selected from each care taker. Results: It was observed that 149 (70.96%) of the subjects had complete immunization while 50 (23.80%) had partial and 11 (5.24%) had no immunization coverage. Complete immunization was observed better in Hindu families of 121 (81.20%) subjects. Literacy status of parents is related to high immunization coverage as observed that 105 (70.47%) mothers and 111 (74.49%) fathers were literate out of 149 completely immunized subjects. Immunization coverage was observed better among children delivered at institutions as 132 (88.59%) out of 149 completely immunized subjects delivered at institutions whereas 23 (46%) from partially immunized and 06 (54.54%) from non-immunized were delivered at home. The commonest reason among partial and non-immunized infant was sickness 22 (36.06%) of elder sibling as a result of the previous vaccination followed by 20 (32.07%) of the sickness of beneficiary at the time of vaccination. Conclusions: There is good immunization coverage observed in this rural block but to achieve the goal of vaccine preventable diseases and the millennium development goal of reducing child mortality, we have to strengthen routine immunization services and also to motivate the community as well as health care providers to follow the National Immunization Programme.

A case of intrafamilial Human Parechovirus type 3 infections resulting in sepsis-like illness in a neonate but hand, foot and mouth disease in an elder sibling

A case of intrafamilial Human Parechovirus type 3 infections resulting in sepsis-like illness in a neonate but hand, foot and mouth disease in an elder sibling

The relationship between the season of birth and early-onset food allergies in children.

This study examined the relationship between the season of birth (SoB) and other factors with the development of FA. A multicenter, cross-sectional pilot study recruited 1197 patients with FA. The main study recruited 440 incident cases (FA group) definitively diagnosed as FA at 0-1 year of age. In both studies, the frequency of autumn-winter births (AWBs) in FA patients was compared to the regional control population. In the main study, we analyzed the differences in the SoB and other factors between patients in the FA group and those in the non-FA group (n = 332) in allergy clinics. The pilot study showed that the frequency of AWB (57.6%) in the FA patients was significantly higher than that of the regional control population (50.4%, OR, 1.34; p < 0.001). The main study also showed the dominance of AWB (62.7%) in the FA group in comparison with that in the regional control population (50.2%, OR, 1.70; p < 0.001). Preterm birth (OR, 0.43; p = 0.027) and the presence of two or more elder siblings (OR, 0.27; p = 0.012) were significantly associated with a lower frequency of FA than those of non-FA. AWB (RR, 1.21; p = 0.020) and preterm birth (RR, 0.55; p = 0.017) were significantly associated with a number of trigger foods. The SoB effect was observed in FA patients irrespective of the presence of infantile eczema. AWB was predominant in the patients with newly diagnosed food allergies.

Bilateral fronto-parietal polymicrogyria in an Indian infant

A 1-year-old boy who presented with global developmental delay, spastic quadriparesis, seizures and squint with similar history in an elder sibling has been described. Magnetic resonance imaging of brain revealed features consistent with bilateral fronto-parietal polymicrogyria, which is a cerebral cortical malformation with characteristic clinical and neuroimaging findings.

Second-hand smoke - ignored implications.

Second-hand smoke - ignored implications.

Bird's nest and ferns: Fidelia Bridges.

Aflash of color or a snippet of birdsong brightens the landscape in grove or grassy meadow, and watching or listening tomembersof themyriadbird familiescan be entertaining and inspiring. A robin’s peppy roundelay at dawnmay render the alarm clock irrelevant for a late sleeper, but it provides a note of cheer and a sense that all is well. The airy, expressive scenesof songsters and their environspainted by Fidelia Bridges (1834-1923) have appeal for both armchair wildlife enthusiasts and birders in their Wellies with binoculars in hand. Born in Salem, Massachusetts, to a seafaring captain and his wife, Bridges endured the early loss of parents: her father died in China in 1849 and her mother passed away in 1850. Hardship ensued for the family with assets such as their home being sold to settle debts, and the eldest sibling Eliza started up a school. In 1854 the Bridges sisters, including a third sister, Elizabeth, moved to Brooklyn, New York, where Eliza continued in education until tuberculosis prevailed; in 1856 Fidelia would lose her to the disease. Bridges had received instruction in drawing but her occupation became that of governess. A benefit of being in Brooklyn was proximity to artistic activities, and Bridges likely viewed the 1857 American Exhibition of British Art featuring the Pre-Raphaelite genre in New York (Hill MB. Fidelia Bridges: American Pre-Raphaelite. New York, NY/North Amherst, MA: New Britain Museum of American Art/Berry-Hill Galleries/Jeffrey R. Brown Fine Arts; 1981:147; Manthorne KE. The voice of nature: The Art of Fidelia Bridges in the 1870s. American Arts Quarterly. Winter 2012: 27-34). The Pre-Raphaelite artistic style is characterized in part by having sensitivity to subtleties of the natural world. A proponent of this approach was the British writer and painter John Ruskin, who urged truth in illustrating nature and asserted that art should serve as a reflection of moral resolve (http://www.britannica.com/EBchecked/topic/513091 /John-Ruskin). Bridges was invited to hear landscape painter William Trost Richards lecture at the Pennsylvania Academy of the Fine Arts in 1860, and there she resumed her art education. A further boon occurred with the opportunity to summer with the Richards family. In response to Ruskin’s influence, Richards had turned to painting scenes from nature in a manner directed to small specifics of plant life. It is thought that this philosophy was well impressed on Bridges; ie, the notion that with an authentic representation of a subject, its character could thus be imparted. Bridges began exhibiting her work at the Academy in 1862 and soon returned to Brooklyn where she showed several works with outdoorsy themes (Hill, pp 9-13). In Bird’s Nest and Ferns, the blue eggs are ensconced in a cozy nest of twigs and grasses. The nest is secured by intertwining nest elements among small branches of a sapling or shrub; ferns and viney flora appear to buttress the structure. There is almost a sense of reverence in the tranquil scene with the ambient light providing an outline of the halo of ferns encircling the nest. The reddish-brown rusty shades of forest sediments composed in part of fallen leaves convey a comforting sense of the earth, diminutive wildland dwellers likely scurrying about under the decaying layers. The erosion of the edge of a leaf in the foreground may reflect its proximity to energetic nest building activities. Another finely wrought nest, encompassed by silvery-green foliage, is seen in Bird’s Nest in Cattails (http://www .metmuseum.org/collection/the-collection-online/search /13390). Bridges received honors that included her election to the NationalAcademyofDesignas anassociate andgainingmembership in the American Society of Painters in Water Colors. For a time shewas engaged in commercial artistic activities in which she created illustrations. Bridges moved to Canaan, Connecticut, around 1892 to a site alongside the Blackberry River. Here she socializedwith friends and gardened, the latter effort documented in Richard’s Fidelia Bridge’s Garden in Canaan, Connecticut (http://www.nationalacademy.org /william-trost-richards-visions-of-land-and-sea/fidelia -bridges-garden-hr-2/). Despitedelights of the locale, she continued to paint into the turn of the century (Hill, pp 17-20). In words penned by Percy Bysshe Shelley in “To a Skylark,” he suggests that there is much to learn from the bird world: “Teach me half the gladness/That thy brain must know,/Such harmonious madness/Frommy lips would flow/The world should listen then, as I am listening now.” Perhaps few have been as attuned to the music of nature and portrayed it as endearingly as has Fidelia Bridges.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

In the folate cycle MTHFD1, encoded by MTHFD1, is a trifunctional enzyme containing 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase activity. To date, only one patient with MTHFD1 deficiency, presenting with hyperhomocysteinemia, megaloblastic anaemia, hemolytic uremic syndrome (HUS) and severe combined immunodeficiency, has been identified (Watkins et al J Med Genet 48:590-2, 2011). We now describe four additional patients from two different families. The second patient presented with hyperhomocysteinemia, megaloblastic anaemia, HUS, microangiopathy and retinopathy; all except the retinopathy resolved after treatment with hydroxocobalamin, betaine and folinic acid. The third patient developed megaloblastic anaemia, infection, autoimmune disease and moderate liver fibrosis but not hyperhomocysteinemia, and was successfully treated with a regime that included and was eventually reduced to folic acid. The other two, elder siblings of the third patient, died at 9weeks of age with megaloblastic anaemia, infection and severe acidosis and had MTFHD1 deficiency diagnosed retrospectively. We identified a missense mutation (c.806C > T, p.Thr296Ile) and a splice site mutation (c.1674G > A) leading to exon skipping in the second patient, while the other three harboured a missense mutation (c.146C > T, p.Ser49Phe) and a premature stop mutation (c.673G > T, p.Glu225*), all of which were novel. Patient fibroblast studies revealed severely reduced methionine formation from [(14)C]-formate, which did not increase in cobalamin supplemented culture medium but was responsive to folic and folinic acid. These additional cases increase the clinical spectrum of this intriguing defect, provide in vitro evidence of disturbed methionine synthesis and substantiate the effectiveness of folic or folinic acid treatment.

Familial renal tubular acidosis: Report of two cases from a single family

Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, as a result of which the person's blood remains very acidic. Without proper treatment, chronic acidity of the blood leads to chronic kidney disease, kidney stones, metabolic bone disease, and growth failure. These are relatively rare inherited renal tubular disorders. We report two cases from a single family with distal RTA (dRTA) or Type 1 RTA presenting with varied clinical manifestations. Sensorineural deafness, which is rarely associated with dRTA, was present in the elder sibling.

Respiratory Syncytial Virus Related Readmission in Preterm Infants Less than 34 weeks' Gestation Following Discharge from a Neonatal Intensive Care Unit in Korea.

This study was done to evaluate respiratory syncytial virus (RSV) related readmission (RRR) and risk factors of RRR in preterm infants < 34 weeks gestational age (GA) within 1 yr following discharge from the neonatal intensive care unit (NICU). Infants (n = 1,140) who were born and admitted to the NICUs of 46 hospitals in Korea from April to September 2012, and followed up for > 1 yr after discharge from the NICU, were enrolled. The average GA and birth weight of the infants was 30+5 ± 2+5 weeks and 1,502 ± 474 g, respectively. The RRR rate of enrolled infants was 8.4% (96/1,140), and RSV accounted for 58.2% of respiratory readmissions of infants who had laboratory tests confirming etiological viruses. Living with elder siblings (odd ratio [OR], 2.68; 95% confidence interval [CI], 1.68-4.28; P < 0.001), and bronchopulmonary dysplasia (BPD) (OR, 2.95; 95% CI, 1.44-6.04; P = 0.003, BPD vs. none) increased the risk of RRR. Palivizumab prophylaxis (OR, 0.06; 95% CI, 0.03-0.13; P < 0.001) decreased the risk of RRR. The risk of RRR of infants of 32-33 weeks' gestation was lower than that of infants < 26 weeks' gestation (OR, 0.11; 95% CI, 0.02-0.53; P = 0.006). This was a nationwide study that evaluated the rate and associated risk factors of RRR in Korean preterm infants. Preterm infants with BPD or living with siblings should be supervised, and administration of palivizumab to prevent RRR should be considered.

Familial Kikuchi-Fujimoto disease

Kikuchi-Fujimoto disease (KFD) is a rare, self-limiting disease of unknown aetiology presenting with cervical lymphadenopathy, fever, vomiting, weight loss, night sweats and chills. Familial occurrence of KFD is reported very rarely in literature. We report two cases from the same family presenting with KFD. The two non-twin sisters presented with symptoms of fever, cervical lymphadenopathy, weight loss, nausea, vomiting, night sweats and chills 6 months apart. The elder sibling with KFD also manifested mononeuritis multiplex. Laboratory evaluation revealed raised erythrocyte sedimentation rate, C-reactive protein levels and leucopenia. Anti-nuclear antibody and anti-double stranded deoxyribonucleic acid antibody were negative. Histopathological findings were suggestive of Kikuchi -Fujimoto's disease. The patients responded well to oral corticosteroid treatment.

A study of health profile in children of working women in Indore

Background: The early childhood development is most crucial and the mother’s care and attention is essential. The inevitable changes like women entering the work field have an effect on the child care and development. This study was done with an objective to study the health profile and its determinants in children of working women by interrogating the mother regarding common health problems of their children, breast feeding practices and immunization coverage of the children. Methods: The data was collected through questionnaires that were named as the mother’s schedule and the child schedule, which consisted of close-ended questions which were coded for an easy data entry. The mother’s schedule looked at the information regarding the mother, like the caretaker during the mother’s absence, the time which was spent with her child each day, etc. The Child schedule looked for information like whether the child was exclusively breast fed, its age in months when the weaning started, whether the government sponsored creche services were utilized, etc. It also included the anthropometrical measurements of the child like its current weight, current height and mid arm circumference, which were obtained by using standardized tools. For each schedule, a separate table was created in a relational basis in MS access, with suitable key fields to connect the information for the analysis. Results: According to our study the major determinants of health of the children of working mother were type of family, family size, working hours of mother, type of mother’s work and substitute care provider in the absence of mother. The prevalence of most of the diseases was also high in nuclear families, when substitute care was provided by elder siblings, very large and very small family size, long working hours of mother and when mother was working as non-skilled and semiskilled worker. Conclusions: There is an adverse effect on the health of children those mothers are working.

Hair Analysis as a Diagnostic and Forensic Tool in a Social Support System for Families with Underage Children and Drug Abusing Parents: Four Year Experience

Between 2011 and 2014, 388 hair samples from children (age 1-14 years) and 594 hair samples from parents/caregivers were analyzed for methadone, opiates, cocaine, amphetamines, ecstasy, cannabinoids and benzodiazepines by LC-MS/MS and GC-MS. Hair testing was preferentially performed for parents/ caregivers. Children were included in case of positive parents/caregivers results or in urgent cases after a court decision if the parents/caregivers declined the testing. A follow-up hair test was performed after 6-months (positive results) or 12-months (negative results). Results: The children hair appeared to be a sensitive indicator of the handling of drugs in their environment and often showed a similar or the same drug profile as their parents. The annual statistics for the initial test of children were no drugs 22-33%, methadone 9-25%, heroin 7.5-28%, cocaine 46-57%, amphetamines and ecstasy 1.6-7.0%, cannabinoids 21-49% and benzodiazepines 0-5%. As a rule, concentrations in hair of younger children were higher than of their elder siblings. In severe cases and based on the entire information about the case, the children were immediately taken into custody, the family court was appealed, the children were admitted to children's homes or foster families, or the drug consuming adult was separated from the family and a withdrawal treatment was initiated. Follow-up tests showed an improvement in the situation of the children particularly in severe cases. Conclusion: Hair analysis proved to be a very efficient working instrument for social authorities in the systematic improvement of child-welfare in drug abusing environments.

Undernutrition: the role of the mothers and others in childcare

Background:India has the largest burden of child mortality and undernutrition in the world. More than one-third of the world’s 150 million undernourished children younger than 5 year old live in India. The objective of this study was to assess the role of the mother in child care and its implications on nutrition of the child. Methods:This cross-sectional study was conducted in Gwalior district among 300 mothers who were selected across the district on the basis of nutritional status of their child. Results:Only 09% mothers were able to spend &gt;3 hours every day for exclusive care of their under-five child. 37.00% mothers admitted that the elder sibling in the family feeds the child. 55.50% mothers stated that they have to work outside to help in earning livelihood. Conclusions:Mother plays the most important role in child up-bringing. Empowering mothers and spreading correct and practical knowledge and awareness about child care practices can help in solving the problem of undernutrition.

Malignant infantile osteopetrosis with cleft lip&amp;#151;a case report

Malignant infantile osteopetrosis (MIOP), a rare congenital disorder of bone resorption, is caused by the failure of osteoclasts to reabsorb immature bones. We report a 3-month-old female child with cleft lip who was referred to the pediatric department for consultation. She was born to consanguineous parents, and the elder sibling expired at the age of 3 years owing to recurrent respiratory tract infections and hydrocephalus. On examination, we found pallor and hepatosplenomegaly. On follow-up, we came to know that she exhibited delayed developmental history and bilateral optic atrophy. Skeletal radiographs showed dense bones with “bone-in-bone” appearance. The overall clinical features and radiological findings of these patients were sufficient to arrive at the diagnosis of MIOP.

Olfactory Agenesis in Kallmann Syndrome (KS).

Kallmann syndrome (KS) is a heterogeneous genetic disorder characterised by isolated gonadotrophic deficiency and anosmia. Defective migration of GnRH neurons along with olfactory neurons results in hypoplasia or agenesis of olfactory bulb and or sulci and gonadotrophin deficiency. We hereby report a young female who presented with features of hypogonadism and anosmia. A 17-year-old female presented to our endocrine clinic with primary amenorrhea. She was born of non-consanguineous marriage and her birth history was unremarkable and developmental mile stones were normal. On questioning, she admitted to the fact that she was not very appreciative of smell from the childhood when compared to other family members. Her stature was at par with her peers and there was neither a history of any chronic illness nor any medication. She had one male elder sibling whose growth and pubertal development were normal according to age. On examination, her height was 162 cm with a mid-parental height of 159 cm. There was no pallor or oedema or thyromegaly. There were no dysmorphic features. Her Tanner staging for breasts was prepubertal (Tanner 1) and pubic hair was also Tanner stage 1. Cardiovascular, respiratory and neurological examinations were within normal limits. Her blood investigations were as follows: TSH – 2 uIU/ml (Normal: 0.8-4), FT4-1.1 ng/dl (Normal: 0.8-1.8), FSH-0.2mIU/ml, LH-0.2mIU/ml, Prolactin-12 ng/ml (Normal<20), morning cortisol -16 μg/dl (Normal: 12-15), Hemoglobin- 13.2 gm/dl, Creatinine- 1.1 mg/dl (Normal: 0.8-1.3). She underwent MRI scanning of the brain [Table/Fig-1] which revealed the absence of olfactory bulb and olfactory sulci [Table/Fig-1]. The MRI brain of a normal subject is shown in [Table/Fig-2] for comparison. Her low gonadotropin levels in the absence of normal pubertal development and imaging features were suggestive of KS, a form of hypogonadotropic hypogonadism. There were no skeletal or renal abnormalities. She was initiated on cyclical oestrogen – progesterone pills with which she developed secondary sexual characters along with menstrual bleeding at one year follow up. [Table/Fig-1]: MRI brain of the patient showing absence of olfactory sulci and bulb [Table/Fig-2]: MRI brain of a normal subject displaying olfactory sulci and bulb KS is a heterogeneous genetic disorder which include hypogonadism and anosmia due to hypoplasia or agenesis of olfactory bulb and sulci along with GnRH deficiency [1]. It is a genetically heterogenous condition, with X-linked, autosomal dominant and recessive modes of inheritance due to mutataions in KAL 1, FGF 8/ FGFR1 and PROK2/PROK2R respectively [2]. The X linked forms may be associated with other phenotypic features. The autosomal forms of KS (A-KS) exhibit no consistent phenotype apart from gonadotropin deficiency and anosmia, although a heterogeneous collection of defects are seen in a minority of cases. The associated defects include cleft palate or other craniofacial and dental defects, unilateral renal agenesis or aplasia; cryptorchidism, micropenis, neural hearing defects and synkinesis or mirror movements of hand [3]. Since GnrH pulsation studies may not be possible at all centres, MRI with 1 mm cut is an important diagnostic tool for diagnosis of KS. Management of these subjects include screening for associated anomalies and monitoring for progressive worsening secondary to organ defects. The goal of the treatment is two folds. First, hormone replacement therapy is needed to induce puberty and to maintain gonadal hormones at near normal physiological levels till fifth decade of life. Secondly, fertility treatment involves administering gonadotrophins to induce ovulation.