I have small genitals, no sex drive and can't smell... meet the men who didn't go through puberty because of this little-known syndrome that affects thousands

While different boys his property were dealing with acne and temper swings, arsenic a teenager, Neil Smith experienced nary of this. For Neil, present 55 and a biomedical idiosyncratic from Rickmansworth successful Hertfordshire, ne'er went done puberty.

He has Kallmann syndrome – a information wherever puberty is delayed oregon absent, owed to a occupation with the merchandise of enactment hormones. Those affected person tiny genitals and nary enactment drive; they besides person a reduced oregon full nonaccomplishment of smell.

Neil lone noticed determination was a occupation astir property 14. He says: 'My genitals didn't grow, I was the smallest successful my twelvemonth and didn't get facial hairsbreadth oregon assemblage odour. But I was ne'er bullied and wasn't unhappy.'

He besides had nary consciousness of odor – 'it didn't impact maine much, but I was a fussy eater. But mostly I didn't interest and nor did my parents. We assumed I was a precocious developer.'

At 15, Neil went to his GP. 'I had nary humor tests, I was told to 'wait and see',' helium recalls.

At this time, helium besides needed proceeding immunodeficiency – 'this, positive the deficiency of a consciousness of odor and delayed development, I present know, are signs of my information – but nary 1 seemed to link them', says Neil.

When helium was 17, Neil's GP sent him to a advisor physician. 'He took humor tests but I don't callback being told the results nor being fixed a diagnosis,' helium says. But the doc did prescribe Neil a low-dose testosterone injection to usage monthly.

'I tried it for 2 years, but it made nary difference,' helium says.

In time, Neil went connected to university, wherever helium studied biomedical subject and, though gangly – astatine 6ft – helium inactive had nary different signs of puberty.

'I besides had nary enactment drive,' helium admits. 'My deficiency of enactment thrust was vaguely annoying, but it didn't halt maine enjoying life. Perhaps successful hindsight, I missed retired connected a batch socially.'

Then, erstwhile helium started a enactment placement astatine the Royal Free Hospital, aged 23, helium took the accidental to analyse his information further.

'I'd heard determination were immoderate salient endocrinologists determination so, 1 lunchtime, I walked up to 1 of their doors and knocked,' recalls Neil.

He explained his symptoms. The advisor asked: 'And bash you person a consciousness of smell?'

'When I replied that I did not, helium simply said: 'You person Kallmann syndrome.'

'No appointment, nary tests, conscionable maine walking into his bureau 1 lunchtime to get my diagnosis.'

Normally during puberty, peculiar nervus cells successful the encephalon trigger the merchandise of reproductive hormones called gonadotropins into the bloodstream to 'wake up' the gonads (testicles successful males, ovaries successful females) to nutrient the enactment hormones (testosterone successful males, oestrogen and progesterone successful females).

But successful radical calved with Kallmann syndrome – and it seems to impact males much than females – these nervus cells don't enactment properly, truthful they ne'er get that awesome and don't spell done puberty.

As the areas of the encephalon that are affected besides modulate odor and hearing, these senses excessively tin beryllium impaired.

Kallmann syndrome occurs arsenic a effect of a mutation successful a gene, explains Dr Sasha Howard, an subordinate prof and honorary advisor successful paediatric endocrinology astatine Queen Mary University of London (QMUL) and Barts Health NHS Trust.

The main symptoms are absent oregon incomplete puberty with infertility, combined with deficiency of consciousness of smell.

'Individuals whitethorn besides person nary underarm oregon pubic hair, debased libido and reduced musculus mass,' she explains. 'Males besides person tiny testicles and a tiny penis; and women whitethorn person small oregon nary bosom development.

'Towards the extremity of puberty, testicles commencement to marque sperm, and females commencement to person periods and ovulate – but this won't hap with Kallmann syndrome.'

Although they won't acquisition emblematic hormone-driven temper swings associated with adolescence, 'patients tin make debased temper and anxiousness from deficiency of the close hormones and feeling antithetic from their peers', she adds.

Kallmann syndrome affects an estimated 2,000 radical successful the UK, says Dr Channa Jayasena, a advisor successful reproductive endocrinology astatine Imperial College London.

Neil needed conscionable 1 humor trial to corroborate his information – which showed his testosterone levels were 'lower than a mean pistillate level', helium recalls.

'In fact, the idiosyncratic moving the trial adjacent asked: 'are you definite this is simply a antheral patient?' My testosterone level was 2.2nmol/l, erstwhile it should person been betwixt 10 and 30.'

Kallman syndrome is not the lone origin of puberty-related problems. Around 2 per cent of radical successful the UK acquisition delayed puberty for a scope of reasons, including a deficiency of puberty hormones owed to a congenital problem, which causes the testicles oregon ovaries not to make properly, oregon a chronic unwellness specified arsenic inflammatory bowel diseases oregon anorexia.

'Constitutional delay' successful puberty – which affects 1 per cent of adolescents and often runs successful families – leads to otherwise-healthy radical entering puberty 2 oregon 3 years aboriginal than mean (age 13 for girls and 14 for boys).

'The close attraction for pubertal issues depends connected the underlying condition,' explains Dr Howard.

'For delayed puberty, often the young idiosyncratic whitethorn not necessitate attraction oregon tin beryllium treated with a abbreviated people of testosterone oregon oestrogen. But if an idiosyncratic has an underlying information specified arsenic Kallmann syndrome, past they volition ne'er spell done puberty – truthful they volition request specializer attraction with due hormone replacement for life.'

After his diagnosis, Neil learned his bones mightiness besides beryllium astatine hazard owed to not having capable testosterone for truthful galore years.

Scans confirmed helium had osteopenia – a deficiency of bony density that's often a precursor to osteoporosis. He was prescribed vitamins, arsenic good arsenic a testosterone gel and Nebido, a cause containing testosterone which was injected into his musculus each 8 weeks.

'This helped with musculus and hairsbreadth maturation – I developed facial hairsbreadth aft 18 months,' recalls Neil.

'So I began to look much similar an big male. I besides developed an accrued enactment drive, but didn't cognize what to bash with it.

'However, attraction did not assistance my testicles oregon penis grow.'

Indeed, portion testosterone attraction for a antheral with Kallmann syndrome tin amended immoderate symptoms – for example, their dependable volition deepen, explains Dr Howard, 'without the close hormones from the brain, the testicles volition stay tiny and underdeveloped and are not capable to marque sperm – truthful that idiosyncratic remains infertile'.

Dr Jayasena adds: 'Injections of gonadotropins are overmuch amended astatine maturing the testicles than testosterone treatment, but they are precise costly [around £2,000-£5,000 per year] and truthful are restricted to men with Kallmann syndrome erstwhile they privation to person babies.'

QMUL is present moving a trial, called 'PinG' – Pubertal induction with gonadotropins – focused connected improving outcomes for young men with Kallmann syndrome, treating them with these gonadotropin medications and besides focussing connected improving their self-confidence and assemblage representation (increasing the likelihood of forming an intimate narration and reducing rates of depression. The survey volition beryllium recruiting 108 men aged 12 to 35 from September from 16 hospitals crossed the UK.

Participants volition person 18 to 24 months of gonadotropin medications and beryllium monitored until they person completed puberty.

'They volition past beryllium followed up with their big endocrinology squad successful their section hospital,' says Dr Howard.

Neil continues to person bony scans each 5 years and takes testosterone. 'Now I look similar a man, I person facial hair, muscles and antheral characteristics,' helium says. 'I've ne'er had a due narration and don't person a regular enactment beingness – but I person a societal beingness and americium blessed considering everything.

'But looking back, I missed retired connected a lot: that clip successful adolescence wherever you get that surge successful adrenaline, to get retired determination and marque mistakes – that ne'er happened.

'So I often privation I had known sooner what was going connected and possibly I could person been fixed medicine and been capable to bask much of my younger life.

'I anticipation my communicative raises consciousness among different people. Seek help, inquire for tests. I privation I had done truthful sooner.'

To find retired much astir the PinG trial, email: [email protected]

For accusation connected delayed puberty spell to: pituitary.org.uk