Growth, Development And Puberty Flashcards
A 14-year-old girl comes to see you as she has not had her periods yet. You note that her breasts are stage II and her nipples are set lateral to the mid-clavicular line. She has no pubic hair. Her weight is on the 50th centile but height is on the 9th centile. Her parents are both of average height. What is the most likely diagnosis?
A. Turner’s syndrome
B. Polycystic ovary syndrome
C. Anorexia
D. Constitutional delay
E. Underlying undiagnosed chronic illness
A. Turner’s syndrome
The answer is Turner syndrome (A) (45,X), which may go undiagnosed in many women until they try to start a family. It is associated with lymphoedema of the hands and feet as a neonate, webbing of the neck, short stature, wide spaced nipples, congenital heart defects (coarctation of the aorta) delayed or absent puberty and infertility. Polycystic ovarian syndrome (B) would be unlikely in a girl who has not started puberty yet. She is of average weight so this is not anorexia (C). Constitutional delay (D) is much more common in males and is the isolated finding of delay in skeletal growth, i.e. height. A chronic illness (E) significant enough to delay puberty would also be associated with failure to thrive.
A 2-year-old child is referred to you by the GP because he has not started walking. His mother says that he can stand but cries to be picked up or sits down shortly. His older sister was walking by 14 months. You note that he is talking well with short two to three word phrases. He is able to build a tower of six blocks. What is your management plan?
A. Advise mum to work harder at giving him independence and follow up in 4 months.
B. Request blood tests including a creatinine kinase
C. Refer for physiotherapy
D. Reassure and discharge as his development is normal
E. Refer to orthopaedics
B. Request blood tests including a creatinine kinase
2 B The best answer here is requesting blood tests including a creatinine kinase (CK) (B). His development is not normal (D). He has delayed gross motor skills but seems otherwise normal. Therefore, an important diagnosis to make would be muscular dystrophy and the mother should not be told to try harder (A). This presentation is more severe than is often seen; typically children are a bit clumsy and walk with a waddling gait. If the blood test shows a raised CK then he will need a muscle biopsy to confirm the diagnosis. Until you have established the diagnosis, it would be inappropriate to refer to physiotherapy (C). Developmental hip dysplasia could present with failure to walk and would require orthopaedic referral (E) but a hip ultrasound to confirm the diagnosis would be the appropriate first step in management.
You see a boy in outpatients whose parents are concerned he is not talking yet. You do a developmental assessment and find he is walking well and able to build a tower of three blocks. He will scribble but does not copy your circle. He is able to identify his nose, mouth, eyes and ears as well as point to mummy and daddy. You do not hear him say anything but his parents say he will say a few single words at home such as mummy, daddy, cup and cat. He is a happy, alert child. Parents report him to be starting to feed himself with a spoon and they have just started potty training but he is still in nappies. What is the child’s most likely age?
A. 12 months B. 15 months
C. 18 months
D. 2 years
E. 2.5 years
C. 18 months
3 CDevelopmental assessment should involve assessing the child in all four areas: gross motor; fine motor and vision; speech, language and hearing; and social, emotional and behaviour. This child is scoring 18 months old (C) in all four areas. He is walking steadily (gross motor), scribbling (fine motor), identifies four body parts (speech and language) and reportedly has several single words – he should have at least 10 words and you have not elicited this from him, but he is not worryingly delayed. This would warrant some follow-up. Likely, his older sister is saying everything for him so he does not have to talk yet. He is feeding himself with a spoon and starting to potty train (social and behavioural). At 12 months (A) he would be walking unsteadily and have 2–3 words; he does more than this. At 15 months (B) he would be scribbling and likely walking well but not managing to feed himself with a spoon. At 2 years (D) you would expect him to build a tower of six blocks and be putting words together. He may also be getting close to potty trained, although modern nappies keep children dry so they are not learning to potty train as early. At 2.5 years (E) he should build a tower of eight blocks.
A one-and-a-half-year-old Caucasian child is referred to paediatrics for failure to thrive. On examination he is a clean, well-dressed child who is quite quiet and withdrawn. He is pale and looks thin with wasted buttocks. His examination is otherwise unremarkable. What is the most likely cause of this child’s growth failure?
His growth chart shows good growth along the 50th centile until 6 months followed by weight down to the 9th, height down to 25th and head circumference now starting to falter at 1.5 years.
A. Coeliac disease
B. Neglect
C. Constitutional delay
D. Normal child
E. Beta thalassaemia
A. Coeliac disease
4 AThe answer here is coeliac disease (A). The clue to this is that his growth was normal until the age of weaning, 6 months. With the introduction of gluten into the diet his growth began to falter. You also note he is pale, likely anaemic, suggestive of malnutrition. One of the classic signs of coeliac disease is the wasted buttocks. Neglect (B) should always be considered in any case of failure to thrive, especially in a child who seems withdrawn, but it is important to remember that chronic illness may make children listless and withdrawn and it is always important to rule out physical illness. You would need multidisciplinary input prior to making the diagnosis of neglect. Constitutional delay (C) is the isolated finding of delay in skeletal growth, i.e. height, and is typically seen around the time of puberty; as his growth failure started with weight this answer is incorrect. He is not a normal child (D) as he was born on the 50th centile and his weight is now on the 2nd centile with other parameters following in the traditional pattern of growth failure: weight followed by height, followed by head circumference. Beta thalassaemia (E) is highly unlikely in a Caucasian child. You would expect them to be pale and develop symptoms including growth failure around 6 months of age, but without transfusions he would be unlikely to survive to a year-and-a-half old.
A 12-year-old boy presents to his GP with left-sided unilateral breast development stage III. He is very upset as he is being bullied at school. His mother is worried as her friend’s sister has just been diagnosed with breast cancer and wants to know if he could have breast cancer? What is the management?
A. Refer for a breast ultrasound
B. Test sex hormone levels
C. Test alpha fetoprotein
D. Reassure and explain this is a normal part of puberty; it will resolve but the other breast may enlarge transiently as well
E. Do a fine needle aspirate on his left breast
D. Reassure and explain this is a normal part of puberty; it will resolve but the other breast may enlarge transiently as well
5 DThis is a common presentation for adolescent males and the correct answer is to reassure (D). Normal puberty for boys starts between 9 and 13 years old with increasing testicular volume above 4 mL. This is followed by penis enlargement, pubic hair growth and lastly the growth spurt. It is not uncommon for boys to develop transient gynaecomastia during puberty. He does not need investigation (A, B, C or E) or intervention, unless the problem does not resolve.
You see a baby for the first baby check at 6 weeks. Mum reports no problems and he is feeding well. On examination you are unable to palpate the testicles on ether side and do not feel any lumps in the groin area. He has a normal penis with no hypospadias and the anus is patent. He is otherwise a normal baby on examination. What is the most important diagnosis to rule out?
A. Klienfelter’s syndrome
B. Congenital adrenal hyperplasia
C. Undescended testicles
D. Virilized female infant
E. Testicular cancer
B. Congenital adrenal hyperplasia
6 B The correct answer is congenital adrenal hyperplasia (CAH) (B), which is most commonly due to 21-hydroxylase deficiency. These infants may present with ambiguous genitalia or bilateral undescended testicles and are at risk of a salt-losing adrenal crisis (vomiting, weight loss, floppy unwell infant), typically around 1–3 weeks of age. It is therefore important to measure urea and electrolytes in addition to chromosomal analysis and a pelvic ultrasound to look for the location of the sex organs. This baby could be a virilized female (D) infant secondary to CAH but the important diagnosis is the underlying cause for the virilization. Undescended testicles (C) are important to identify as they should be followed up to ensure they do descend by 2 years of age. If they remain out of the scrotum they are at increased risk of developing testicular cancer (E) but this would not be a diagnosis found at this stage. Klinefelter’s syndrome (A) has a karyotype 47XXY and typically presents as tall stature, delayed puberty and possibly mild learning difficulties but not undescended testicles.
You see an 8-year-old boy in accident and emergency who fell off his bike 3 days ago and scraped his left calf. The cuts are now angry, red and painful. You note he is a big boy and plot his growth: his weight is on the 99th centile and height is on the 75th centile. You note mild gynaecomastia and stretch marks on his abdomen which are normal skin colour. His past medical history is unremarkable except for mild asthma. What is the most likely cause of his large size?
A. Cushing’s syndrome secondary to a pituitary adenoma
B. Cushing’s syndrome secondary to becotide inhaler use
C. Obesity
D. His size is within the normal range and is a variant of normal
E. Liver failure
C. Obesity
7 C This child is obese (C). He should be advised to continue exercise, such as bike riding, and make healthy choices for his diet, such as eating fruit rather than potato chips for snacks. Children should not be put on diets under normal circumstances as a normal healthy diet with regular exercise will improve his weight as he grows. In the context of a wound infection and abdominal striae, many worry that obesity may be Cushing’s syndrome but this would typically present with growth failure and his height is above average (A), which is typical of obesity (C). Cushing syndrome is not caused by steroid inhalers (B) but may be seen in children with severe asthma on oral steroids. While both his height and weight plot on the lines of the centile chart, only 1 per cent of the population of 8 year olds have his weight normally and his height does not match his weight centile, suggesting that he is overweight (D). The mild gynaecomastia is unlikely to be made of breast tissue and is more likely to be fat pads as he is active riding bikes. It is unlikely that he is unwell enough to be in liver failure despite possibly having gynaecomastia (E).
A 16-year-old boy is brought to the GP by his parents. They are concerned he is the shortest boy in his class. He is otherwise well. His height and weight are on the 9th centile. His father plots on the 75th centile and his mother on the 50th centile for adult height. On examination, his testicular volume is 8 mL, he has some fine pubic and axillary hair. The rest of the physical examination is normal. On further questioning you elicit from his father that he was a late bloomer and did not reach his full height until he was at university. What is the most likely cause of the boy’s short stature?
A. The 9th centile is a normal height and weight so there is nothing wrong with him
B. Growth hormone deficiency
C. Constitutional delay of growth and puberty
D. Underlying chronic illness should be sought
E. Anorexia
C. Constitutional delay of growth and puberty
8 C This is constitutional delay of growth and puberty (C). It classically runs in families in the male line and presents with delayed puberty and growth spurt. He has started puberty and it seems to be progressing in the normal pattern so he should be reassured that he will get his growth spurt as he finishes puberty. While 9 per cent of the population will have his height and weight (A) and be normal, the mid-parental height suggests he should be taller than he is (the mean parental height plus 7 cm for boys or minus 7 cm for girls predicts the adult height of the child ± two standard deviations). As he has started puberty and is otherwise well this is unlikely to be growth hormone deficiency (B) or underlying chronic illness (D). In anorexia (E) you would expect the weight to be less than the height centile and to be more extremely low.
A mother comes to see you with her 2-year-old daughter, Stacey, out of frustration that her daughter is so ill behaved. She does not know how to make her listen and is worried that she is going to get hurt. Yesterday she ran ahead and did not stop when her mother called to her. She ran into the street and was hit by a cyclist, but fortunately he was OK and Stacey had only had a few cuts and scrapes and seems alright! On questioning you hear other stories of a naughty child. She is active and eats well, feeding herself a lot now, but her mother does say she gets frequent coughs and colds. Her mother says that Stacey only says about 5–10 words and only she can understand what Stacey says. What is the best next management?
A. Ask the health visitor to visit mum for parenting advice and support
B. Order blood tests for full blood count to check for leukaemia as she has recurrent coughs and colds
C. Give Stacey a tetanus shot to cover her after her fall the day before
D. Refer for a hearing test
E. Tell Stacey that she needs to listen to her mother and not have any more accidents
D. Refer for a hearing test
9 DStacey seems to have some speech delay. She is feeding herself and running which is appropriate for a 2 year old but she is only talking at about a year-and-a-half’s age level and she is difficult to understand. This, along with a story of poor attentiveness in a child, raises concerns of hearing problems. The most common cause would be glue ear associated with recurrent coughs and colds and she should have a hearing test (D). She does not need any blood tests (B) as all children at this age have recurrent coughs and colds, the average being eight illnesses a year. Only recurrent severe infections warrant investigation for immune deficiency. The routine childhood vaccinations cover her for tetanus (C); unless her records say she has not had them she does not need a booster, and she will have the pre-school booster and one when she is a teenager. Answer (E) will not change Stacey’s behaviour; young children respond to positive and negative reinforcement techniques to modify behaviour.
An older mother books in to see you after attending the health visitor for a weight check at 2 months for her first child. She and her husband have had a hard time coming to terms with their daughter’s diagnosis of Down’s syndrome. She is relieved that the appointment with the cardiologists went well and the heart is normal. However they have a lot of trouble getting her to take the whole bottle, she was slow to regain her birth weight and looking at the plotted weight yesterday she is not growing along her birth centile and the mother is worried she is not doing a good enough job. She is not vomiting except for small possets after feeds, is passing urine and opening her bowels. The red book growth chart shows the weight to be falling off centiles. What is the most appropriate management?
A. Contact the cardiologists in light of the poor feeding and slow weight gain for a second opinion as baby’s with Down’s syndrome are at high risk of heart problems and they may have missed it
B. Refer to the dietician for nutritional support
C. Replace the growth chart in their red book with a Down’s syndrome growth chart, reassure mum by re-plotting her growth and explain she is normal but arrange to review again
D. Tell the mother to try a different milk and come back in 2 weeks
E. Advise the mother to change to a faster flow teat for their bottles so that she takes her feed faster
C. Replace the growth chart in their red book with a Down’s syndrome growth chart, reassure mum by re-plotting her growth and explain she is normal but arrange to review again
10 C Children with Down’s syndrome do have different growth patterns to other children and should be given special growth charts in their red books, so the correct answer is (C). If the cardiologist has carried out an echocardiogram (A) and discharged the patient, unless there are clinical signs and symptoms to warrant re-referral, this would be a waste of resources and needless worry for the parents. A dietician referral (B) will be needed if she is failing to thrive and continues to have difficulty feeding, but this should be done with investigations for a cause. Parents do shop around to find a milk their child prefers but in the absence of an intolerance the over the counter milks (D) are all equally good and this is unlikely to help. A faster teat (E) may make things worse as Down’s syndrome is associated with low tone and swallowing difficulties, so she may choke if the flow is too fast.
