Issue 53 Autumn 2021

Margaret Zacharin explores the issues and sensitivity involved in supporting families with additional needs, in the context of puberty

So, it’s Monday morning. You’re on the way to outpatients, looking forward to a few TSH 7.5mU/l’s, maybe a constitutional delay and, if you’re lucky, a well-controlled CAH. The first family appears: an exhausted mother, wheeling a double pram with a clearly developmentally delayed 8-year-old girl with a long leg plaster, plus her brother, thrashing around irritably next to her. They are accompanied by a 14-year-old agitated young woman, clasping her mother’s arm. This morning’s clinic is not looking to be as simple as you might have imagined! A brief history ascertains that the older girl has severe autism, and is currently under the care of developmental paediatrics and psychiatry. She achieved menarche 3 months ago. Enormous family and social difficulties become apparent in your history-taking: the girl having escalating anxiety at the sight of menstrual blood, demonstrating grossly disinhibited behaviours and tantrums, throwing away her menstrual pads in public. The other children are twins, born at 24 weeks gestation, with the unfortunate consequences of extremely preterm birth, both with cerebral palsy. The little boy is agitated but more mobile than his sister. He is intermittently quite aggressive, recently having sat on his severely disabled sister, breaking her femur. Further history-taking ascertains that this is a single parent family, father having departed, struggling financially and socially, with major issues with school and carers. To make matters worse, the 8-year-old is showing distinct signs of breast development over 9 months, with increased irritable episodic screaming for no apparent reason. Mother has major fears that she will follow her sister’s pattern after menarche

How on earth are you going to manage this family? Being an endocrinologist, you haven’t thought a lot about developmental problems and their consequences for quite some time and your gynaecology was always a bit scratchy. After taking a deep breath, you remember to ascertain that the little girl is non-verbal, gastrostomy fed, with difficult epilepsy, requiring four anticonvulsants. Pubic hair has been present from age four. Mother’s concerns relate to puberty and whether she will manage! Her brother is smaller, as second twin, his birth weight 550 grams at 24 weeks. Fortunately, despite chronic lung problems, his epilepsy is less severe. Behavioural disturbance has significantly worsened since father departed, throwing household items and recently injuring his sister. Looking after these children, the mother is distraught, particularly with the older girl reacting so badly, with increased behavioural disturbance preceding and during menstruation. School has reported worrying, risky, sexualised interactions with boys at special school. By this time you’re feeling as desperate as the mother. Clearly, advice and management will require complex interdisciplinary care, but much will devolve to you, to formulate a plan to make this family’s life tolerable. To first deal with the older girl seems sensible, then perhaps a staff member can help while you discuss options for the twins. She reacts wildly when she sees blood, a common issue with autism. Stopping periods with a continuous contraceptive pill seems an option, but occasional respite care, visiting her father, risks erratic medication delivery, consequent withdrawal bleeds and exacerbated problems! The implantable progestogen rod is clearly inappropriate, with 10% likelihood of amenorrhoea and requiring general anaesthesia for insertion. A progesterone-bearing IUD might solve the dilemma, being low dose without hypothalamic-pituitary gonadal (HPG) axis inhibition, whilst providing 4−5 years of amenorrhoea and complete contraception. Mother was unaware of this possibility for a young teenager and is absolutely delighted to hear that gynaecologic referral may significantly alter the burden of care for her daughter. You breathe a sigh of relief as you appear to have gained the mother’s trust. You cautiously move to the 8-year-old, with a minimal trauma long bone fracture, at risk for more. When you examine her, she is 145cm with stage 3 breast and stage 4 pubic hair. A long explanation of various management options will confuse mother. You start with a GnRH agonist, but mother is worried; she just wants periods prevented and is not at all interested in maximised height. Two similar menstrual disasters would be impossible! Repeated specialist visits would create a further burden, so you suggest depot progestogen to effectively prevent menstruation and slow pubertal progress. This sounds better, as the local doctor can administer 3-monthly injections. You remember to say that, whilst this treatment is good at age eight, under no circumstances can it continue beyond age 12 without addition of oestrogen, because it inhibits the HPG axis with failure of bone mass accrual. Eventually, an IUD like her sister will be possible, after completion of uterine growth. Mother interrupts to ask about possible further fractures. The conversation is complicated. You explain that whilst anticonvulsants and immobility reduce bone quality, sex hormone accumulates cortical thickness, with